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Gene: Cdx2 MGI:88361

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
caudal type homeobox 2
Synonyms:
Cdx-2

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cdx2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cdx2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Lynch Syndrome 1
Colon cancer OMIM:120435
Lynch Syndrome 2
Colon cancer OMIM:609310
Familial Adenomatous Polyposis 2
Colon cancer, Adenomatous colonic polyposis OMIM:608456
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Polyposis Syndrome, Hereditary Mixed, 2
Colon cancer, Hyperplastic colonic polyposis, Juvenile colonic polyposis, Adenomatous colonic pol... OMIM:610069
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis ORPHA:401911
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Polyposis, Intestinal, With Multiple Exostoses
Multiple exostoses, Intestinal polyposis OMIM:175450
Desmoid Disease, Hereditary
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma OMIM:135290
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Gastric Cancer
Stomach cancer OMIM:613659
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis OMIM:246470
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colon, Colorecta... ORPHA:247798
Paraganglioma And Gastric Stromal Sarcoma
Paraganglioma, Neoplasm of the gastrointestinal tract OMIM:606864
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P... ORPHA:157798
Cholangiocarcinoma, Susceptibility To
Cholangiocarcinoma OMIM:615619
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colon cancer, Adenomatous co... OMIM:613244
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Mismatch Repair Cancer Syndrome 4
Astrocytoma, Non-Hodgkin lymphoma, Adenomatous colonic polyposis, Glioblastoma multiforme, Colon ... OMIM:619101
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c... OMIM:114500
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Thyroid adenoma, Colon cancer, Stomach cancer, Juvenile gastrointestinal po... ORPHA:480536
High-Grade Dysplasia In Patients With Barrett Esophagus
Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction ORPHA:231080
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colorectal polyposis OMIM:612591
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Hereditary Mixed Polyposis Syndrome
Hematochezia, Colon cancer, Adenomatous colonic polyposis, Endometrial carcinoma, Thyroid carcino... ORPHA:157794
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... ORPHA:447877
Birt-Hogg-Dube Syndrome 1
Cutaneous leiomyoma, Colon cancer, Cutaneous leiomyosarcoma, Multiple lipomas, Large intestinal p... OMIM:135150
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou... ORPHA:329971
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Familial Adenomatous Polyposis 3
Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c... OMIM:616415
Ganglioneuroma
Gastrointestinal hemorrhage, Abnormal rectum morphology, Ganglioneuroma, Hamartomatous polyposis,... ORPHA:251992
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer OMIM:619096
Familial Adenomatous Polyposis 4
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Astrocytoma, Breast intraductal papi... OMIM:617100
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... ORPHA:263665
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Hirschsprung Disease
Functional abnormality of the gastrointestinal tract, Neoplasm of the thyroid gland, Intestinal p... ORPHA:388
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Barrett Esophagus
Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma, Esophageal ulceration OMIM:614266
Tumor Predisposition Syndrome 2
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... OMIM:619975
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Scoliosis, Abnormal rib morphology ORPHA:3268
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Desmoid Tumor
Neoplasm of the skin, Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, ... ORPHA:873
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Intestinal polyposis, Multiple lipomas, Lymphoid nodular hyperplasia, Hurthle ... ORPHA:210548
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate OMIM:137215
Cowden Syndrome 7
Trichilemmoma, Intestinal polyposis, Ductal carcinoma in situ, Hemangioma, Papilloma, Papillary t... OMIM:616858
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio... ORPHA:2345
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Intestinal polyposis, Neoplasm, Hama... ORPHA:2930
Juvenile Nasopharyngeal Angiofibroma
Juvenile colonic polyposis, Juvenile nasopharyngeal angiofibroma ORPHA:289596
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... OMIM:609813
Autosomal Dominant Spondylocostal Dysostosis
Abnormal rib morphology, Posterior rib fusion, Vertebral segmentation defect, Missing ribs, Short... ORPHA:1797
Muir-Torre Syndrome
Sebaceous gland carcinoma, Colonic diverticula, Colon cancer, Malignant genitourinary tract tumor... OMIM:158320
Jejunal Atresia
Jejunal atresia OMIM:243600
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Cutaneous leiomyoma, Papillary renal cell carcinoma type 2, Vaginal neoplasm, ... ORPHA:523
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... OMIM:184400
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Low back pain, Missing ribs, Short neck, Supernumerary rib... OMIM:122600
Heart Defects-Limb Shortening Syndrome
Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:1354
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal r... ORPHA:2790
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Patent ductus arteriosus, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl... ORPHA:424019
Thoracolaryngopelvic Dysplasia
Slender build, Bell-shaped thorax, Horizontal ribs, Short ribs, Irregular chondrocostal junctions... OMIM:187760
Lynch Syndrome
Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Hematological neop... ORPHA:144
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... OMIM:619079
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... ORPHA:2198
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Kyphomelic Dysplasia
Narrow chest, Abnormal form of the vertebral bodies, Undulate ribs, Missing ribs, Anterior rib cu... ORPHA:1801
Mismatch Repair Cancer Syndrome 3
Lymphoma, Astrocytoma, Neoplasm of the rectum, Lisch nodules, T-cell lymphoma, Glioblastoma multi... OMIM:619097
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... OMIM:277300
Metatropic Dysplasia
Narrow chest, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Long thorax,... ORPHA:2635
Turcot Syndrome With Polyposis
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma, Glioblast... ORPHA:99818
Lynch Syndrome 4
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... ORPHA:733
Mismatch Repair Cancer Syndrome 1
Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ... OMIM:276300
Laryngotracheoesophageal Cleft Type 4
Tracheoesophageal fistula, Intestinal atresia, Abnormal form of the vertebral bodies, Abnormal ri... ORPHA:93941
Juvenile Polyposis Syndrome
Rectocele, Gastrointestinal hemorrhage, Protein-losing enteropathy, Hematochezia, Colon cancer, S... ORPHA:2929
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Spondylocostal Dysostosis 4, Autosomal Recessive
Anal stenosis, Block vertebrae, Abnormal odontoid process morphology, Bell-shaped thorax, Vertebr... OMIM:613686
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov... OMIM:614350
Mosaic Trisomy 14
Narrow chest, Failure to thrive, Short neck, Ectopic anus, Abnormal rib morphology, High palate, ... ORPHA:1703
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Obesity, Eunuchoid habitus, Short neck, Hemivertebrae, Abn... ORPHA:2234
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Pancreatic adeno... ORPHA:2869
Oligodontia-Colorectal Cancer Syndrome
Fundic gland polyposis, Breast carcinoma, Adenomatous colonic polyposis, Colon cancer OMIM:608615
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Melanoma, Primary peritoneal carcinoma, Ovarian neoplasm, Neoplasm of the pancre... ORPHA:145
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Abnormal vertebral segme... ORPHA:66637
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... ORPHA:276399
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Cowden Syndrome 6
Thyroid adenoma, Colonic diverticula, Kyphosis, Subcutaneous lipoma, Meningioma, Fibroadenoma of ... OMIM:615109
Cowden Syndrome 5
Thyroid adenoma, Colonic diverticula, Kyphosis, Subcutaneous lipoma, Meningioma, Furrowed tongue,... OMIM:615108
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Esophageal neoplasm, Intestinal obstruction, ... ORPHA:44890
Benign Schwannoma
Peripheral schwannoma, Schwannoma, Intestinal polyposis, Vestibular schwannoma, Scleral schwannom... ORPHA:252164
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Protein-losing enteropathy OMIM:619063
Peutz-Jeghers Syndrome
Intestinal bleeding, Gastrointestinal carcinoma, Uterine neoplasm, Neoplasm of the pancreas, Mult... OMIM:175200
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula OMIM:221400
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy OMIM:251850
Cowden Syndrome 1
Thyroid adenoma, Colonic diverticula, Kyphosis, Subcutaneous lipoma, Meningioma, Fibroadenoma of ... OMIM:158350
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Colon cancer, Neoplasm of head and neck, Papillary renal cell carcinoma, Papillary thyroid carcin... ORPHA:97290
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends ORPHA:168555
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Multiple rib fractures, Pectus excavatum, Scoliosis, Kyphosis OMIM:259440
Becker Nevus Syndrome
Pectus carinatum, Rib fusion, Supernumerary ribs, Pectus excavatum, Spina bifida occulta, Scolios... ORPHA:64755
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Increased fecal bile acid, Fat malabsorption OMIM:613291
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Uterine neoplasm, Scoliosis, Lymphoma, Capillary hemangioma,... ORPHA:109
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Villous atrophy OMIM:615863
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Intestinal malrotation, ... OMIM:615237
Cap Polyposis
Atrophic gastritis, Hematochezia, Colorectal polyposis ORPHA:160148
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal form of the vertebral bodies, Obesity, Sprengel anomaly, Hemivertebrae, Abnormal rib mor... ORPHA:2180
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Obesity, Bell-shaped thorax, Horizontal ribs, Lateral clavicle ... OMIM:615633
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Dysphagia, Anteriorly placed anus, Abnormal rib morphology ORPHA:280195
Hirschsprung Disease, Susceptibility To, 3
Aganglionic megacolon, Total colonic aganglionosis, Long-segment aganglionic megacolon OMIM:613711
Basal Cell Nevus Syndrome 1
Cardiac rhabdomyoma, Sprengel anomaly, Basal cell carcinoma, Vertebral wedging, Medulloblastoma, ... OMIM:109400
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Abnormal rib morphology, Cleft palate, Hypoplastic distal segments of scapulae OMIM:602196
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Abnormal rib morphology, Vertebral segmentation defect ORPHA:2578
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hemangioma, Intestinal polyp ORPHA:457485
Diarrhea 9
Villous atrophy OMIM:618168
Becker Nevus Syndrome
Pectus excavatum, Scoliosis, Hemivertebrae, Cervical ribs OMIM:604919
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Short neck, Hyperlordosis, Abnormal rib morphology, Pectus excavatu... ORPHA:2522
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Pate... OMIM:300048
Aicardi Syndrome
Block vertebrae, Gastroesophageal reflux, Intestinal polyposis, Butterfly vertebrae, Hiatus herni... ORPHA:50
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Narrow chest, Hypoplasia of the odontoid process, Caudal appendage,... OMIM:156530
Chronic Diarrhea Due To Glucoamylase Deficiency
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level ORPHA:103907
Axial Mesodermal Dysplasia Spectrum
Gastroesophageal reflux, Abnormal form of the vertebral bodies, Anorectal anomaly, Abnormal gastr... ORPHA:1834
Mccune-Albright Syndrome
Intestinal polyposis, Pituitary adenoma OMIM:174800
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Glossitis, Hama... OMIM:175500
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Abnormal rib morphology, Rib segmentation abnormalities, V... ORPHA:2311
Prune Belly Syndrome
Volvulus, Intestinal malrotation, Vertebral segmentation defect, Intestinal atresia, Abnormal rib... ORPHA:2970
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnormal rib morphology, Scoliosis... OMIM:118100
Poland Syndrome
Rib fusion, Sprengel anomaly, Hemivertebrae, Short ribs OMIM:173800
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Horizontal ribs, Lateral clavicle hook, Short ribs OMIM:617405
Familial Melanoma
Melanoma, Neoplasm of the stomach, Neoplasm of the breast, Neoplasm of the pancreas ORPHA:618
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Narrow chest, Abnormal clavicle morphology, Short neck, Abnormal rib morphology ORPHA:93267
Cat-Eye Syndrome
Anal atresia, Abnormal rib morphology ORPHA:195
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Narrow chest, Posterior wedging of vertebral bodies, Aplasia/Hypoplasia of the ver... ORPHA:168549
Secondary Short Bowel Syndrome
Volvulus, Villous atrophy, Abnormal small intestine morphology, Aganglionic megacolon, Small inte... ORPHA:95427
Lymphangiectasia, Intestinal
Prominent floating ribs, Intestinal lymphangiectasia OMIM:152800
Fibrochondrogenesis 2
Platyspondyly, Thoracic hypoplasia, Bell-shaped thorax, Short ribs, Cupped ribs OMIM:614524
Cowden Syndrome
Neoplasm of the skin, Follicular thyroid carcinoma, Melanoma, Adenoma sebaceum, High palate, Colo... ORPHA:201
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Alpha-Heavy Chain Disease
Abnormal small intestine morphology ORPHA:100025
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules OMIM:619445
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Intestinal malrotation, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the tongue, Missing ribs, Hemiverteb... ORPHA:2759
Femoral-Facial Syndrome
Vertebral segmentation defect, Rib fusion, Sprengel anomaly, Abnormal rib morphology, Abnormal sa... ORPHA:1988
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal clavicle morpholo... ORPHA:628
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Neoplasm of head and neck, Papillary renal cell carcinoma, Papillar... ORPHA:319487
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Platyspondyly, Thin ribs, Obesity, Narrow vertebral interpedicular distance, Short neck, Scoliosi... OMIM:618395
Gorlin Syndrome
Abnormal vertebral morphology, Vertebral wedging, Abnormal rib morphology, Meningioma, Neoplasm, ... ORPHA:377
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, C1-C2 subluxation, Hyperlord... OMIM:184250
Juvenile Polyposis Syndrome
Hematochezia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Neoplasm of the ... OMIM:174900
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Missing ribs, Rib fusion, Short ... OMIM:271520
Mosaic Variegated Aneuploidy Syndrome
Rhabdomyosarcoma, Vaginal neoplasm, Stomach cancer, Myelodysplasia, Intestinal polyposis, Nephrob... ORPHA:1052
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Cleft palate, Abnormal rib morphology OMIM:601076
Fibrochondrogenesis
Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies, Broad ribs, Bell-shape... ORPHA:2021
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Lumbar hyperlordosis, Cupped ribs, Beaking of vertebral bodies, Scoliosis, Irregul... OMIM:609616
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Scoliosis, Anteriorly placed anus, Abnormal rib morphology ORPHA:2319
Campomelia, Cumming Type
Abnormal thorax morphology, Abnormal intestine morphology, Abnormal rib morphology, Myelodysplasi... ORPHA:1318
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Short thorax, Abnormal sternum morphology, Abnormal r... ORPHA:474
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Thin ribs, Thoracic hypoplasia, Bell-shaped thorax, Multiple rib fractures, Small ... OMIM:166210
Schneckenbecken Dysplasia
Platyspondyly, Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Ovoid vertebral bodies, N... OMIM:269250
Three M Syndrome 2
Thin ribs, Pectus carinatum, Lumbar hyperlordosis, Short neck, Hyperlordosis, Scapular winging, S... OMIM:612921
Achondrogenesis Type 1B
Narrow chest, Short neck, Abnormal rib morphology, Short thorax ORPHA:93298
Lethal Congenital Contracture Syndrome Type 1
Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:1486
Cooper-Jabs Syndrome
Missing ribs, Scoliosis, Anteriorly placed anus, Abnormal rib morphology ORPHA:1488
Mesomelic Dysplasia, Kantaputra Type
Abnormal rib morphology, Vertebral segmentation defect ORPHA:1836
Mucopolysaccharidosis, Type Iva
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Lumbar kyphosis, Short neck,... OMIM:253000
Renpenning Syndrome
High, narrow palate, Cachexia, Sprengel anomaly, Abnormal rib morphology, Pectus excavatum, Anal ... ORPHA:3242
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Vascular Hyalinosis
Protein-losing enteropathy, Hematochezia OMIM:277175
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Neurofibroma, Dysphagia, Intestinal obstruction OMIM:606764
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Intestinal bleeding, Adenomatous colonic polyposis, Duodenal polyposis, Hepatoblastoma, Short nec... ORPHA:261584
Punctate Palmoplantar Keratoderma Type 1
Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Esophage... ORPHA:79501
Mucopolysaccharidosis, Type X
Platyspondyly, Broad clavicles, Broad ribs, Spatulate ribs, Beaking of vertebral bodies, Hyperlor... OMIM:619698
Medulloblastoma
Medulloblastoma, Back pain, Adenomatous colonic polyposis, Spinal cord tumor, Cerebellar medullob... ORPHA:616
White Forelock With Malformations
Spina bifida occulta, Sprengel anomaly, Abnormal rib morphology ORPHA:2475
Dyggve-Melchior-Clausen Disease
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Atlantoaxial instability, Fa... ORPHA:239
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Aplasia/Hypoplas... ORPHA:958
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neop... ORPHA:440437
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Colon cancer, Burkitt lymphoma, Myelodysplasia, Prostate cancer, Nephroblastoma, Hodgkin lymphoma... ORPHA:158057
Holt-Oram Syndrome
Abnormal clavicle morphology, Down-sloping shoulders, Sprengel anomaly, Abnormal rib morphology, ... ORPHA:392
Mucopolysaccharidosis Type 4
Platyspondyly, Pectus carinatum, Abnormal rib morphology, Spinal canal stenosis, Short neck, Hype... ORPHA:582
Grant Syndrome
Abnormality of the glenoid fossa, Narrow chest, Sprengel anomaly, Abnormal rib morphology ORPHA:2097
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption OMIM:607748
Adenocarcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl... ORPHA:424016
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Broad clavicles, Narrow chest, Hypoplastic sac... OMIM:200600
Tylosis With Esophageal Cancer
Esophageal carcinoma, Oral leukoplakia OMIM:148500
Mucopolysaccharidosis Type 6
Failure to thrive, Broad ribs, Short neck, Macroglossia, Kyphosis, Ovoid vertebral bodies ORPHA:583
Cartilage-Hair Hypoplasia
Asymmetry of the thorax, Anal stenosis, Hypoplasia of the odontoid process, Narrow chest, Lymphom... OMIM:250250
Intussusception
Intussusception OMIM:147710
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thoracolumbar kyphosis, Thin ribs, Narrow chest, Thoracic hypoplasia, Disc-like vertebral bodies,... OMIM:151210
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Abnormal rib morphology ORPHA:93351
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Thoracic hypoplasia, Posterior rib cupping, Lumbar hyperlordosis, Pectus excavatum... OMIM:608728
Congenital Tufting Enteropathy
Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal small intestinal mucosa mo... ORPHA:92050
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Gastrointestinal carcinoma, Hamartomatous polyposis, Juvenile gastrointestinal poly... OMIM:175050
Cerebrofaciothoracic Dysplasia
Narrow chest, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel anomaly, Hemiverteb... ORPHA:1394
Hypophosphatasia
Failure to thrive in infancy, Narrow chest, Abnormal rib morphology ORPHA:436
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Patent ductus arteriosus, Duodenal stenosis ORPHA:2547
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Tracheoesophageal fistula, Hyperlordosis, Abnormal rib morphology ORPHA:3068
Osteogenesis Imperfecta, Type X
Platyspondyly, Thin ribs, Narrow chest, Thoracic hypoplasia, Broad ribs, Thoracic scoliosis, Mult... OMIM:613848
Achondrogenesis Type 1A
Multiple rib fractures, Narrow chest, Short neck, Short thorax ORPHA:93299
Shwachman-Diamond Syndrome 1
Narrow chest, Failure to thrive, Irregular ossification at anterior rib ends, Acute myeloid leuke... OMIM:260400
Brachytelephalangic Chondrodysplasia Punctata
Gastroesophageal reflux, Hypoplastic cervical vertebrae, Cervical kyphosis, Cervical spinal canal... ORPHA:79345
3M Syndrome
Thin ribs, Increased vertebral height, Horizontal ribs, Short neck, Hyperlordosis, Scapular wingi... ORPHA:2616
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Dysphagia, Pa... ORPHA:97286
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Narrow chest, Multiple rib fractures, Vertebral compression fracture, Small for ge... OMIM:616229
Eosinophilic Gastroenteritis
Protein-losing enteropathy, Hematochezia, Abnormality of the gastrointestinal tract, Steatorrhea,... ORPHA:2070
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia ORPHA:103910
Monosomy 9Q22.3
Abnormality of the vertebral column, Large for gestational age, Medulloblastoma, Nephroblastoma, ... ORPHA:77301
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Thoracic hypoplasia, Hamartoma of tongue, Intestinal malrotation, Horizontal ribs, Short ribs, Bi... OMIM:613091
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Pectus carinatum, Short neck, Kyphosis, Abnormal rib morphology ORPHA:3082
Alg1-Cdg
Protein-losing enteropathy, Abnormality of the gastrointestinal tract ORPHA:79327
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Lethal Kniest-Like Dysplasia
Platyspondyly, Narrow chest, Short ribs, Hypoplastic vertebral bodies, Short neck, Anterior rib c... ORPHA:2347
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cupped ribs, High palate, Short ribs, Kyphoscoliosis ORPHA:1145
Fibrochondrogenesis 1
Platyspondyly, Thin ribs, Hypoplastic scapulae, Thoracic hypoplasia, Posterior rib cupping, Short... OMIM:228520
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Abnormally ossified vertebrae, Abnormal rib morphology, Bifid t... ORPHA:2167
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Intestinal malrotation, Microcolon OMIM:619431
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Chylomicron Retention Disease
Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes OMIM:246700
Alg6-Cdg
Protein-losing enteropathy, Macroglossia ORPHA:79320
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Platyspondyly, Thin ribs, Hypoplasia of the odontoid process, Kyphoscoliosis, Short neck, Promine... OMIM:300232
10Q22.3Q23.3 Microdeletion Syndrome
Intestinal polyposis ORPHA:276413
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, 11 pairs of ribs, Thin ribs OMIM:300863
Vertebral Hypersegmentation And Orofacial Anomalies
Submucous cleft hard palate, Supernumerary ribs, Unilateral cleft palate, Scapular winging, Six l... OMIM:619122
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Thoracic hypoplasia, Short ribs, Multiple rib fractures, Short neck, Small for ges... OMIM:616897
Sacral Agenesis With Vertebral Anomalies
Abnormal vertebral morphology, Absence of the sacrum, Persistent cloaca, Vertebral clefting, Anal... OMIM:615709
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs OMIM:122860
Achondrogenesis, Type Ii
Absent vertebral body mineralization, Horizontal ribs, Barrel-shaped chest, Short ribs, Cleft palate OMIM:200610
Melnick-Needles Syndrome
Anisospondyly, Narrow chest, Short thorax, Short clavicles, Abnormal rib morphology, Scoliosis ORPHA:2484
Trigonocephaly 1
High, narrow palate, Meckel diverticulum OMIM:190440
Cole-Carpenter Syndrome
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:2050
Vacterl/Vater Association
Anorectal anomaly, Vertebral segmentation defect, Tracheoesophageal fistula, Abnormal rib morphol... ORPHA:887
Visceral Myopathy 1
Microcolon, Intestinal pseudo-obstruction, Megaduodenum, Thinning of outer muscular layer of smal... OMIM:155310
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Intestinal malrotation, Neoplasm of the heart, Abnormality of the gastrointestinal tr... ORPHA:2241
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis ORPHA:1759
Dyggve-Melchior-Clausen Disease
Platyspondyly, Pectus carinatum, Hypoplastic scapulae, Hypoplasia of the odontoid process, Flat g... OMIM:223800
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Dysph... OMIM:252930
Mungan Syndrome
Barrett esophagus, Megaduodenum, Hypoperistalsis, Intestinal pseudo-obstruction OMIM:611376
Trisomy 13
High, narrow palate, Narrow chest, Capillary hemangioma, Abnormal rib morphology, Scoliosis, Kyph... ORPHA:3378
Dysosteosclerosis
Platyspondyly, Narrow chest, Broad ribs, Increased intervertebral space, Sclerotic scapulae, Hypo... OMIM:224300
Pericardial And Diaphragmatic Defect
Intestinal malrotation, Patent ductus arteriosus, Meckel diverticulum, Abnormal gastrointestinal ... ORPHA:2847
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Failure to thrive, Obesity, Rib fusion, Scoliosis, Cleft palate, P... ORPHA:261197
Poland Syndrome
Asymmetry of the thorax, Pectus carinatum, Acute leukemia, Abnormal sternum morphology, Aplasia/H... ORPHA:2911
Pancreatic Colipase Deficiency
Steatorrhea, Fat malabsorption ORPHA:309108
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Pectus carinatum, Narrow chest, Microglossia, Thoracic dysplasia, Hamartoma of ton... OMIM:263520
Martinez-Frias Syndrome
Intestinal malrotation, Jejunal atresia, Tracheoesophageal fistula, Intestinal hypoplasia, Duoden... OMIM:601346
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Aspergillosis
Abnormal esophagus morphology, Hematological neoplasm, Abnormality of the vertebral column, Abnor... ORPHA:1163
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Abnormal cervical curvature, Vertebral fusion, Cleft palate OMIM:312150
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology ORPHA:2643
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Patent ductus arteriosus OMIM:608104
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Thin ribs, Narrow chest, Gastroesophageal reflux, Abnormal form of the vertebral bodies, Abnormal... ORPHA:73230
Craniosynostosis, Herrmann-Opitz Type
Cleft palate, Abnormal rib morphology ORPHA:2145
Garg-Mishra Progeroid Syndrome
Platyspondyly, Narrow chest, Thin ribs, Ovoid vertebral bodies OMIM:620601
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Protein-losing enteropathy, Villous atrophy OMIM:602579
Mitchell-Riley Syndrome
Meckel diverticulum, Anteriorly placed anus, Intestinal malrotation, Jejunal atresia, Acholic sto... OMIM:615710
Cole-Carpenter Syndrome 2
Platyspondyly, Thin ribs, Pectus excavatum, High palate, Kyphosis OMIM:616294
Phaver Syndrome
Butterfly vertebrae, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:2876
Alagille Syndrome
Abnormal form of the vertebral bodies, Failure to thrive, Vertebral segmentation defect, Butterfl... ORPHA:52
Congenital Disorder Of Glycosylation, Type Iig
Posterior rib gap, Failure to thrive in infancy, Butterfly vertebrae, Kyphoscoliosis, Vertebral s... OMIM:611209
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Ileal ulcer OMIM:616744
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Mucopolysaccharidosis, Type Iiia
Ovoid thoracolumbar vertebrae, Scoliosis, Thickened ribs OMIM:252900
Familial Pancreatic Carcinoma
Intestinal pseudo-obstruction, Colon cancer, Pancreatic adenocarcinoma, Ovarian carcinoma, Melano... ORPHA:1333
Aicardi Syndrome
Block vertebrae, Metastatic angiosarcoma, Teratoma, Butterfly vertebrae, Carcinoma, Hiatus hernia... OMIM:304050
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Vertebral compression fracture, Biconcave vertebral bodies OMIM:617952
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large for gestational age, Coat hanger sign of ribs, Small for gestational age, Thoracic hypoplasia ORPHA:254534
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Failure to thrive in infancy, Broad ribs, Flaring of rib cage, Fused cervical vertebrae OMIM:612852
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Pontine Tegmental Cap Dysplasia
Rib fusion, Scoliosis, Failure to thrive, Hemivertebrae OMIM:614688
Tetraamelia-Multiple Malformations Syndrome
Missing ribs, Anal atresia, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3301
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Abnormal cervical curvature, Vertebral fusion, Cleft palate OMIM:253290
Duodenal Atresia
Duodenal atresia OMIM:223400
Osteogenesis Imperfecta, Type Iii
Thin ribs, Scoliosis, Kyphosis, Biconcave vertebral bodies OMIM:259420
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Cleft palate, Decreased body weight OMIM:618265
Dextrocardia
Intestinal malrotation, Meckel diverticulum, Abnormal rib morphology, Neuroblastoma ORPHA:1666
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Hypoplasia of the odontoid process, Prominent sternum, Flaring of rib cage, Hyperl... OMIM:253010
Mpi-Cdg
Protein-losing enteropathy, Gastrointestinal hemorrhage ORPHA:79319
Cartilage-Hair Hypoplasia
Pectus carinatum, Narrow chest, Biconvex vertebral bodies, Failure to thrive, Abnormal form of th... ORPHA:175
Cat Eye Syndrome
Anal stenosis, Meckel diverticulum, Volvulus, Intestinal malrotation, Rectal fistula, Rectal atre... OMIM:115470
Cleidocranial Dysplasia
High, narrow palate, Hypoplastic scapulae, Narrow chest, Glossoptosis, Down-sloping shoulders, Sh... ORPHA:1452
Mednik Syndrome
Microcolon, Volvulus, Jejunal atresia OMIM:609313
Congenital Alveolar Capillary Dysplasia
Volvulus, Duodenal stenosis, Intestinal malrotation, Aganglionic megacolon, Tracheoesophageal fis... ORPHA:210122
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Flat glenoid fossa, Obesity, Lumbar hyperlordosis, Short ribs, Cupped ribs, Irregular chondrocost... OMIM:250420
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology ORPHA:2772
Gm1-Gangliosidosis, Type I
Thickened ribs, Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodies, Scoliosis,... OMIM:230500
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon OMIM:619362
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Narrow chest, Thoracic hypoplasia, Horizontal ribs, Short ribs, Lateral clavicle hook OMIM:617895
Cerebrocostomandibular Syndrome
Posterior rib gap, Anal stenosis, Gastroesophageal reflux, Thoracic hypoplasia, Anteriorly placed... OMIM:117650
Cenani-Lenz Syndrome
High, narrow palate, Scoliosis, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:3258
Mosaic Trisomy 8
Narrow chest, Vertebral segmentation defect, Short neck, Abnormal rib morphology, High palate, Sc... ORPHA:96061
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Thickened ribs OMIM:252920
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Chemodectoma, Gastrointestinal stroma tumor, Adrenal pheochromocy... OMIM:115310
Microphthalmia, Syndromic 3
Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, Esophageal atresia, Hypothalam... OMIM:206900
Greenberg Dysplasia
Platyspondyly, Fractured rib, Narrow chest, Thoracic hypoplasia, Abnormal scapula morphology, Sup... OMIM:215140
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal rib morphology, Vertebral segmentation defect ORPHA:1120
Systemic Sclerosis
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... ORPHA:90291
Refractory Celiac Disease
Protein-losing enteropathy, Villous atrophy, Jejunitis ORPHA:398063
Autosomal Dominant Centronuclear Myopathy
Thin ribs, Cavernous hemangioma, Pyloric stenosis ORPHA:169189
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, High palate ORPHA:456328
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia ORPHA:163961
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad ribs, High palate, Vertebral arch anomaly ORPHA:85184
Radio-Renal Syndrome
High, narrow palate, Short neck, Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:3015
Cantú Syndrome
Platyspondyly, Narrow chest, Broad ribs, Cuboid-shaped vertebral bodies, Short neck, Ovoid verteb... ORPHA:1517
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs ORPHA:2519
Kagami-Ogata Syndrome
Thoracic hypoplasia, Large for gestational age, Bell-shaped thorax, Kyphoscoliosis, Hepatoblastom... ORPHA:254519
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Thin ribs ORPHA:163966
Occipital Horn Syndrome
Platyspondyly, Pectus carinatum, Broad clavicles, Narrow chest, Broad ribs, Hiatus hernia, Short ... OMIM:304150
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Abnormal form of the vertebral bodies, Missing ribs, Abnormal rib morphology, ... ORPHA:2769
Trisomy 1Q
Anal atresia, Abnormal rib morphology, Cleft palate, Short thorax ORPHA:261344
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Bell-shaped thorax, Failure to thrive, Horizontal ribs OMIM:614857
Beckwith-Wiedemann Syndrome
Macroglossia, Neoplasm, Nephroblastoma, Adrenocortical carcinoma, Facial hemangioma, Hepatoblasto... ORPHA:116
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Decreased body weight OMIM:614833
Multiple Pterygium-Malignant Hyperthermia Syndrome
Capillary hemangioma, Abnormal rib morphology, Pectus excavatum, Scoliosis, Kyphosis, Cleft palate ORPHA:2215
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Narrow chest, Thoracic dysplasia, Hamartoma of tongue, Intestinal malrotati... OMIM:269860
Fg Syndrome Type 1
Abnormal large intestine morphology, Gastroesophageal reflux, Abnormal sternum morphology, Anal a... ORPHA:93932
Schwartz-Jampel Syndrome
Platyspondyly, Pectus carinatum, Odontogenic neoplasm, Shoulder flexion contracture, Decreased bo... ORPHA:800
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Hamartoma of tongue, Horizontal ribs, Long thorax, Short ribs, Short neck, Anal atr... OMIM:617925
Lethal Congenital Contracture Syndrome 10
Narrow chest, Broad ribs, Thoracic scoliosis, Short neck, High palate, Macroglossia, Narrow palate OMIM:617022
Autosomal Recessive Multiple Pterygium Syndrome
Failure to thrive, Abnormal sternum morphology, Vertebral segmentation defect, Rib fusion, Pectus... ORPHA:2990
Hurler Syndrome
Abnormal vertebral morphology, Abnormal clavicle morphology, Spinal canal stenosis, Short neck, A... ORPHA:93473
Hereditary Hemorrhagic Telangiectasia
Gastrointestinal hemorrhage, Tongue telangiectasia, Intestinal polyposis, Gastrointestinal arteri... ORPHA:774
Bent Bone Dysplasia Syndrome 2
Platyspondyly, Thin ribs, Butterfly vertebrae, Short ribs, Short sternum, Short neck, Coronal cle... OMIM:620076
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Lumbar hemivertebrae, Thin ribs, Eunuchoid habitus, Pectus excavatum, High palate ORPHA:2463
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Thyroid carcinoma, Abnormal lumbar spine morphology, Abnormality of... ORPHA:249
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Narrow chest, Large for gestational age, Rib fusion, Short neck, Beaking of vertebral bodies, Cle... OMIM:213980
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Thin ribs, Barrel-shaped chest, Vertebral compression fracture, Scoliosis, Kyphosis OMIM:610915
Congenital Myopathy 22B, Severe Fetal
Thin ribs, Shoulder flexion contracture, Thoracic hypoplasia, Thoracic scoliosis, Short neck, Sca... OMIM:620369
Mucolipidosis Iii Alpha/Beta
Broad ribs, Spondylolisthesis, Short ribs, Scoliosis, Kyphosis OMIM:252600
Meier-Gorlin Syndrome 1
Thin ribs, Abnormal rib cage morphology, Pectus carinatum, Flat glenoid fossa, Failure to thrive,... OMIM:224690
Lethal Congenital Contracture Syndrome 5
Thin ribs, Small for gestational age OMIM:615368
Kyphomelic Dysplasia
Platyspondyly, Thoracic hypoplasia, Undulate ribs, Anterior rib cupping, Cleft palate, Lateral cl... OMIM:211350
Oculocerebrocutaneous Syndrome
Missing ribs, Exostoses, Abnormal rib morphology ORPHA:1647
Gracile Bone Dysplasia
Thin ribs, Ankyloglossia, Failure to thrive OMIM:602361
Cog1-Cdg
Posterior rib gap, Failure to thrive, Butterfly vertebrae, Vertebral segmentation defect, Kyphosc... ORPHA:263508
Kagami-Ogata Syndrome
Thin ribs, Long clavicles, Bell-shaped thorax, Kyphoscoliosis OMIM:608149
Acrorenal-Mandibular Syndrome
Thin ribs, Narrow palate, Hypoplastic scapulae, Narrow chest, Abnormal sacral segmentation, Butte... OMIM:200980
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Microcolon, Ileal atresia, Patent ductus arteriosus OMIM:619351
Antley-Bixler Syndrome
Narrow chest, Cleft palate, Abnormal rib morphology ORPHA:83
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platyspondyly, Thoracolumbar kyphosis, Thoracic hypoplasia, Thoracic platyspondyly, Horizontal ri... OMIM:618019
Otopalatodigital Syndrome Type 2
Narrow chest, Failure to thrive, Abnormal rib morphology, Glossoptosis, Scoliosis, Cleft palate, ... ORPHA:90652
Frontometaphyseal Dysplasia 1
Cervical C2/C3 vertebral fusion, Scapular winging, Anteriorly placed odontoid process, High palat... OMIM:305620
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Pectus carinatum, Gastroesophageal reflux, Supernumerary ribs, High palate, Pectus exc... OMIM:182212
Autosomal Dominant Popliteal Pterygium Syndrome
Scoliosis, Cleft palate, Abnormal rib morphology ORPHA:1300
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr... ORPHA:141127
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, Abnormal scapula morphology, Abnormal rib morphology ORPHA:93317
Mucopolysaccharidosis, Type Vi
Pectus carinatum, Hypoplasia of the odontoid process, Anterior wedging of L1, Broad ribs, Lumbar ... OMIM:253200
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Esophagitis, Neoplasm of the urethra, Squamous cell carcinom... ORPHA:2908
Serkal Syndrome
Malrotation of small bowel ORPHA:139466
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow chest, Hamartoma of tongue, Bell-shaped thorax, Horizontal ribs, Short ribs, Bifid tongue,... OMIM:616300
Craniometadiaphyseal Dysplasia
Broad ribs, High palate, Scoliosis OMIM:269300
Severe Congenital Nemaline Myopathy
Thin ribs, Abnormal thorax morphology, Dysphagia ORPHA:171430
Multiple Pterygium Syndrome, Escobar Variant
Anterior clefting of vertebral bodies, Exostosis of the external auditory canal, Down-sloping sho... OMIM:265000
Scedosporiosis
Abnormal jejunum morphology ORPHA:449280
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Platyspondyly, Abnormal rib cage morphology, 11 pairs of ribs, Decreased body weight, Kyphoscolio... OMIM:271640
Osteopathia Striata With Cranial Sclerosis
Thoracolumbar kyphosis, Bifid uvula, Anal stenosis, Gastroesophageal reflux, Intestinal malrotati... OMIM:300373
Xylt1-Cdg
Short clavicles, Broad ribs, Cleft palate, Truncal obesity ORPHA:370930
Pyknoachondrogenesis
Unossified sacrum, Horizontal ribs, Short ribs, Poorly ossified vertebrae, Short thorax, Enlarged... ORPHA:3003
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Fat malabsorption, Acholic stools OMIM:607765
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Pyloric stenosis OMIM:616395
Cholestasis, Progressive Familial Intrahepatic, 2
Fat malabsorption, Hepatocellular carcinoma OMIM:601847
Myotubular Myopathy With Abnormal Genital Development
Thin ribs, High palate OMIM:300219
Kenny-Caffey Syndrome, Type 1
Thin ribs, Long clavicles, Thin clavicles OMIM:244460
Hallermann-Streiff Syndrome
High, narrow palate, Narrow palate, Thin ribs, Abnormal rib cage morphology, Decreased number of ... OMIM:234100
Sclerosteosis 1
Broad clavicles, Sclerotic vertebral endplates, Broad ribs, Sclerotic scapulae OMIM:269500
Proprotein Convertase 1/3 Deficiency
Villous atrophy OMIM:600955
Netherton Syndrome
Recurrent infection of the gastrointestinal tract, Villous atrophy, Intestinal atresia OMIM:256500
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Thin clavicles ORPHA:93324
Hyperparathyroidism, Transient Neonatal
Thin ribs, Narrow chest, Fractured rib, Gastroesophageal reflux, Undulate ribs, Short ribs OMIM:618188
Mucopolysaccharidosis, Type Iiid
Thickened ribs, Thoracic scoliosis, Pilonidal sinus, Hypoplastic vertebral bodies, Short neck, Ov... OMIM:252940
Acrocapitofemoral Dysplasia
Pectus carinatum, Narrow chest, Lumbar hyperlordosis, Short ribs, Cupped ribs, Pectus excavatum, ... OMIM:607778
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Microcolon, Ileus ORPHA:163746
Oculoskeletodental Syndrome
Protein-losing enteropathy, Macroglossia OMIM:618440
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Abnormality of the vertebral column, Failure to thrive, Abnormal f... ORPHA:280
Osteogenesis Imperfecta
Thin ribs, Pectus carinatum, Narrow chest, Small for gestational age, Cervical kyphosis, Abnormal... ORPHA:666
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Narrow palate, Rectal prolapse, Intestinal lymphangiectasia OMIM:235510
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, High palate, Cleft palate OMIM:235255
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Increased stool alpha1-antitrypsin concentration, Functional abnorma... ORPHA:90362
Fryns Syndrome
Thin ribs, Meckel diverticulum, Thoracic hypoplasia, Intestinal malrotation, Broad ribs, Aganglio... OMIM:229850
Weill-Marchesani Syndrome 1
Spinal canal stenosis, Broad ribs, Lumbar hyperlordosis, Narrow palate, Scoliosis OMIM:277600
Van Den Ende-Gupta Syndrome
High, narrow palate, Thin ribs, Hypoplastic scapulae, Sacral dimple, Glenoid fossa hypoplasia, Sh... OMIM:600920
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Rib fusion, Celiac disease, Large for gestational age, Sacral dimple ORPHA:544488
Immunodeficiency 31C
Protein-losing enteropathy, Villous atrophy, Gastrointestinal eosinophilia, Intussusception OMIM:614162
Campomelic Dysplasia
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Cervical kyphosis, Hypoplastic cervical verteb... OMIM:114290
Schinzel-Giedion Midface Retraction Syndrome
Failure to thrive, Broad ribs, Teratoma, Hypoplasia of first ribs, Facial hemangioma, Short neck,... OMIM:269150
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Cupped ribs, Severe platyspondyly, Scoliosis, Ovoid vertebral bodies OMIM:608940
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Platyspondyly, Cupped ribs, Scoliosis, Ovoid vertebral bodies ORPHA:85167
Nestor-Guillermo Progeria Syndrome
Thin ribs, Failure to thrive, Scoliosis, Rib osteolysis, Progressive clavicular acroosteolysis OMIM:614008
Vater/Vacterl Association
Abnormal vertebral morphology, Failure to thrive, Abnormal sternum morphology, Tracheoesophageal ... OMIM:192350
Simpson-Golabi-Behmel Syndrome
High, narrow palate, Macroglossia, Abnormal rib morphology, Neoplasm, Nephroblastoma, Vertebral s... ORPHA:373
Bloom Syndrome
Neoplasm of the skin, Gastroesophageal reflux, Lymphoma, Malignant genitourinary tract tumor, Neo... ORPHA:125
Kbg Syndrome
Cervical ribs, Rib fusion, Short neck, Vertebral fusion, Vertebral arch anomaly, Thoracic kyphosis OMIM:148050
Hereditary Acrokeratotic Poikiloderma
Xerostomia, Oral leukoplakia, Ankyloglossia, Squamous cell carcinoma, Abnormality of the gastroin... ORPHA:2907
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Thoracic hypoplasia, Prominent sternum, Pectus excavatum, Macroglossia, Coat hanger sign of ribs ORPHA:254528
Lenz-Majewski Hyperostotic Dwarfism
Broad clavicles, Microglossia, Failure to thrive, Anteriorly placed anus, Broad ribs, Hemivertebr... OMIM:151050
Metachromatic Leukodystrophy
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum morphology, Intussusc... ORPHA:512
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Fat malabsorption OMIM:214950
Myhre Syndrome
Platyspondyly, Bifid uvula, Submucous cleft hard palate, Abnormal rib morphology, Cleft palate ORPHA:2588
Restrictive Dermopathy
Thin ribs, Microcolon, Increased anterioposterior diameter of thorax, Submucous cleft hard palate... ORPHA:1662
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Anteriorly placed anus, Broad ribs, Ependymoma, Abnormal thorax mor... ORPHA:798
Chylomicron Retention Disease
Steatorrhea, Fat malabsorption ORPHA:71
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Narrow chest, Abnormality of the costochondral junction, Thoracic hypoplasi... ORPHA:96334
Tarp Syndrome
Meckel diverticulum, High palate, Glossoptosis, Tongue nodules, Cleft palate OMIM:311900
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Microcolon, Intestinal malrotation, Cervical ribs OMIM:600001
Smith-Lemli-Opitz Syndrome
Microglossia, Gastroesophageal reflux, Abnormal form of the vertebral bodies, Facial capillary he... ORPHA:818
Autosomal Recessive Robinow Syndrome
Pectus carinatum, Ankyloglossia, Vertebral segmentation defect, Rib fusion, Ectopic anus, Short n... ORPHA:1507
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption ORPHA:79302
Cancer-Associated Retinopathy
Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino... ORPHA:71505
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Meckel diverticulum, Intestinal malrotation, Patent ductus ... OMIM:265380
Trisomy 18
Anal atresia, Esophageal atresia, Abnormal rib morphology, Narrow palate, Cleft palate ORPHA:3380
Premature Aging Syndrome, Penttinen Type
Thin ribs, Scoliosis, Failure to thrive, Cervical ribs OMIM:601812
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, High palate ORPHA:1655
Carney Complex
Follicular thyroid carcinoma, Neoplasm of the pharynx, Ovarian dermoid cyst, Neoplasm of the rect... ORPHA:1359
Robinow Syndrome, Autosomal Recessive 1
Macroglossia, Microglossia, Hypoplastic sacrum, Thoracic hemivertebrae, Absent uvula, Rib fusion,... OMIM:268310
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Abnormal rib morphology, Mac... ORPHA:581
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, 11 pairs of ribs, Short ribs, Cupped ribs, Short neck, Horizontal in... OMIM:250220
Robinow Syndrome
Ankyloglossia, Kyphoscoliosis, Missing ribs, Rib fusion, Hemivertebrae, Fused thoracic vertebrae,... ORPHA:97360
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Abnormal vertebral morphology, Hypoplastic scapulae, Gastroesophageal reflux... ORPHA:95699
Alagille Syndrome 1
Failure to thrive, Abnormal rib morphology, Butterfly vertebral arch, Hemivertebrae, Papillary th... OMIM:118450
Ellis-Van Creveld Syndrome
Pectus carinatum, Narrow chest, Horizontal ribs, Short ribs OMIM:225500
Monosomy 9P
Abnormality of the vertebral column, Short neck, Abnormal rib morphology, High palate, Scoliosis,... ORPHA:261112
Zttk Syndrome
Bifid uvula, Failure to thrive, Cervical ribs, Submucous cleft hard palate, Rib fusion, Intestina... OMIM:617140
Whim Syndrome
Abnormal small intestine morphology, Parotitis ORPHA:51636
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Meckel diverticulum, Patent ductus arteriosus, Anterio... ORPHA:1708
Pallister-Hall Syndrome
Microglossia, Anteriorly placed anus, Midline facial capillary hemangioma, Rib fusion, Hypothalam... OMIM:146510
X-Linked Hypophosphatemia
Rachitic rosary, Sacroiliac joint synovitis, Multiple rib fractures, Enlargement of the costochon... ORPHA:89936
Malakoplakia
Neoplasm of the colon, Neoplasm of the rectum, Prostate neoplasm ORPHA:556
Myhre Syndrome
Platyspondyly, Broad ribs, Obesity, Enlarged vertebral pedicles, Short neck, Vertebral fusion, Sm... OMIM:139210
Pseudo-Torch Syndrome 2
Thin ribs OMIM:617397
Stuve-Wiedemann Syndrome 1
Thin ribs, Smooth tongue, Short neck, Scoliosis, Ovoid vertebral bodies OMIM:601559
Ear-Patella-Short Stature Syndrome
High, narrow palate, Bifid uvula, Aplastic clavicle, Failure to thrive, Submucous cleft hard pala... ORPHA:2554
Eiken Syndrome
Broad ribs, Decreased body weight OMIM:600002
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Hematochezia OMIM:618183
Camptodactyly Syndrome, Guadalajara Type 3
Spina bifida occulta, Short neck, Abnormal rib morphology ORPHA:488434
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine OMIM:200995
Tarp Syndrome
Glossoptosis, Abnormal duodenum morphology, Tongue nodules, Cleft palate ORPHA:2886
Wolf-Hirschhorn Syndrome
Malrotation of small bowel, Small for gestational age, Abnormal form of the vertebral bodies, Fai... OMIM:194190
Weill-Marchesani Syndrome 2
Spinal canal stenosis, Broad ribs, Lumbar hyperlordosis, High palate, Narrow palate, Scoliosis OMIM:608328
Musculocontractural Ehlers-Danlos Syndrome
Malrotation of small bowel, High palate, Cleft palate ORPHA:2953
1P36 Deletion Syndrome
Gastroesophageal reflux, Spinal canal stenosis, 11 pairs of ribs, Abnormal intestine morphology, ... ORPHA:1606
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Broad ribs, Obesity, Hyperlordosis, Cleft palate OMIM:301066
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Failure to thrive, Fused cervical vertebrae, Cleft vertebral arch, Long clavicles, Cle... ORPHA:83617
Alpha-Mannosidosis, Infantile Form
Platyspondyly, Pectus carinatum, Recurrent gastroenteritis, Short neck, Pectus excavatum, Macrogl... ORPHA:309282
Zygomycosis
Colon perforation, Hematochezia, Gastrointestinal hemorrhage, Ileitis, Gastritis, Enterocolitis, ... ORPHA:73263
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Horizontal ribs, Short ribs, Lateral clavicle hook OMIM:208500
Oculocerebrorenal Syndrome Of Lowe
Platyspondyly, Neoplasm of the skin, Odontogenic neoplasm, Failure to thrive, Benign neoplasm of ... ORPHA:534
Ulbright-Hodes Syndrome
Thin ribs, Short ribs, Short sternum, Short neck, Ovoid thoracolumbar vertebrae, Abnormal rib mor... ORPHA:3404
Osteogenesis Imperfecta, Type Vii
Narrow chest, Multiple rib fractures, Pectus excavatum, Vertebral compression fracture, Scoliosis OMIM:610682
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Horizontal ribs, Short ribs, Aplasia of the epiglottis, Short clavicles, Hamartoma OMIM:617088
Fanconi Anemia
Meckel diverticulum, Aplasia/Hypoplasia of the uvula, Duodenal stenosis, Azoospermia, Aganglionic... ORPHA:84
Femoral-Facial Syndrome
Absent vertebra, Gastroesophageal reflux, Dysplastic sacrum, 11 pairs of ribs, Missing ribs, Rib ... OMIM:134780
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Progressive congenital scoliosis, Platyspondyly, Gastrointestinal hemorrhage, Thin ribs, Kyphosco... OMIM:225400
Fetal Akinesia Deformation Sequence 1
High, narrow palate, Thin ribs, Thoracic hypoplasia, Short neck, High palate, Small for gestation... OMIM:208150
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Hiatus hernia, Abnormal duodenum morphology, High palate, Cleft palate OMIM:601776
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Pectus carinatum, Broad clavicles, Broad ribs, Barrel-shaped chest, Pilonidal sinus, Short neck, ... OMIM:276820
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Gastrointestinal hemorrhage, Hepatoblastoma, Cholangiocarcinoma, Fat ... ORPHA:731
Cranioectodermal Dysplasia 2
Narrow chest, Horizontal ribs, Short ribs, Short neck, Pectus excavatum, High palate, Cleft palate OMIM:613610
Fraser Syndrome 1
Abnormal small intestine morphology, Abnormality of the anus, Cleft palate OMIM:219000
Baller-Gerold Syndrome
Abnormal vertebral morphology, Bifid uvula, Anteriorly placed anus, Perineal fistula, Midface cap... OMIM:218600
Fraser Syndrome
Anal stenosis, Anorectal anomaly, Vertebral segmentation defect, Ectopic anus, Anal atresia, Abno... ORPHA:2052
Charge Syndrome
Gastroesophageal reflux, Tracheoesophageal fistula, Hemivertebrae, Abnormal rib morphology, Abnor... ORPHA:138
Craniotubular Dysplasia, Ikegawa Type
Platyspondyly, Broad ribs, Increased intervertebral space OMIM:619727
Cardiospondylocarpofacial Syndrome
Failure to thrive, Herniation of intervertebral nuclei, Rib fusion, Scoliosis, Fused cervical ver... OMIM:157800
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Undulate ribs, Short clavicles, Short neck, Pectus excavatum, High palate OMIM:609945
Charge Syndrome
Anal stenosis, Down-sloping shoulders, Tracheoesophageal fistula, Esophageal atresia, Hemivertebr... OMIM:214800
Mucopolysaccharidosis Type 2, Severe Form
Abnormal vertebral morphology, Macroglossia, Spinal canal stenosis, Thickened ribs ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal vertebral morphology, Macroglossia, Spinal canal stenosis, Thickened ribs ORPHA:217093
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Patent ductus arteriosus, Cleft palate OMIM:274000
Townes-Brocks Syndrome
Abnormal vertebral morphology, Anteriorly placed anus, Rectoperineal fistula, Abnormal rib morpho... ORPHA:857
Autosomal Recessive Cutis Laxa Type 1
Small bowel diverticula, Pyloric stenosis ORPHA:90349
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Bifid uvula, Cervical ribs, Failure to thrive in infancy, Lumbar hyperlordosis, Submucous cleft s... ORPHA:500150
Trisomy 8P
Bifid uvula, Malrotation of small bowel, Cleft palate ORPHA:264450
Osteopetrosis With Renal Tubular Acidosis
Prominent floating ribs, Pectus excavatum, High palate, Failure to thrive ORPHA:2785
Viss Syndrome
High, narrow palate, Bifid uvula, Gastroesophageal reflux, Broad uvula, Celiac disease, Intestina... OMIM:619472
Mandibuloacral Dysplasia Progeroid Syndrome
Thin ribs, Pectus excavatum, High palate, Supernumerary ribs OMIM:619127
Pagod Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:991
Coccidioidomycosis
Broad ribs, Abnormality of the vertebral column ORPHA:228123
Chromosome 1P36 Deletion Syndrome, Distal
Bifid uvula, Obesity, 11 pairs of ribs, Submucous cleft hard palate, Rib fusion, Abnormality of t... OMIM:607872
Liver Disease, Severe Congenital
Protein-losing enteropathy, Patent ductus arteriosus, Chronic gastritis OMIM:619991
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Abnormal rib morphology ORPHA:667
Wiedemann-Rautenstrauch Syndrome
Thin ribs, Narrow chest, Failure to thrive, Short neck, Scoliosis, Small for gestational age OMIM:264090
Pallister-Hall Syndrome
Bifid uvula, Microglossia, Large for gestational age, Midline facial capillary hemangioma, Osteoc... ORPHA:672
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Pulmonary carcinoid tumor, Ne... ORPHA:99889
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures OMIM:612301
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow palate, Exaggerated median tongue furrow, Meckel diverticulum, Intestinal malrotation, Hep... OMIM:312870
Plague
Inflammation of the large intestine, Ileitis, Enterocolitis, Hematemesis, Glossitis ORPHA:707
Genitopatellar Syndrome
Malrotation of small bowel, Anal stenosis, Anteriorly placed anus, Anal atresia, Dysphagia OMIM:606170
Autosomal Dominant Cutis Laxa
Small bowel diverticula ORPHA:90348

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cdx2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cdx2.

No publications found that use IMPC mice or data for Cdx2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Cdx2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cdx2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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