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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
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
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... OMIM:610069
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Desmoid Disease, Hereditary
Colorectal polyposis, Colon cancer, Desmoid tumors OMIM:135290
Polyposis, Intestinal, With Multiple Exostoses
Intestinal polyposis OMIM:175450
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Gastric Cancer
Stomach cancer OMIM:613659
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... ORPHA:247798
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Adenomatous colonic polyposis, Colon cancer OMIM:246470
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis OMIM:615083
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer OMIM:613244
Mismatch Repair Cancer Syndrome 4
Glioblastoma multiforme, Astrocytoma, Adenomatous colonic polyposis, Colon cancer, Non-Hodgkin ly... OMIM:619101
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... ORPHA:157798
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Colorectal polyposis OMIM:612591
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Hereditary Mixed Polyposis Syndrome
Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Hema... ORPHA:157794
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma OMIM:619182
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... ORPHA:480536
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... ORPHA:263665
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... ORPHA:447877
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Cutaneous leiomyosarcoma, Trichodiscoma, Fibrofolliculoma, Multiple lipomas, Rena... OMIM:135150
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... OMIM:616415
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormal rib morphology, Scoliosis, Pectus carinatum ORPHA:3268
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple... ORPHA:251992
Hirschsprung Disease
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Functional abnormality of th... ORPHA:388
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vertebral segmentation defect OMIM:608681
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Desmoid... ORPHA:873
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer OMIM:619096
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Cronkhite-Canada Syndrome
Intestinal polyposis, Malabsorption, Furrowed tongue, Hamartomatous polyposis, Colon cancer, Gast... ORPHA:2930
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abnormal shoulder ... ORPHA:2345
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Hypoplasia of the odontoid process, Rib fusion, Vertebral segmentation defect, Scoliosi... OMIM:609813
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Autosomal Dominant Spondylocostal Dysostosis
Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m... ORPHA:1797
Jejunal Atresia
Jejunal atresia OMIM:243600
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... OMIM:184400
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... ORPHA:247806
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal rib morphology, Narrow chest, Abnormal form of the vertebral bodies ORPHA:1354
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the ver... ORPHA:2790
Thoracolaryngopelvic Dysplasia
Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,... OMIM:187760
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... OMIM:619079
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Lymphoid... ORPHA:210548
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Patent ductus arteriosus, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Barrett Esophagus
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux OMIM:614266
Kyphomelic Dysplasia
Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Abnormal ... ORPHA:1801
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Gastroesop... ORPHA:2198
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Familial Adenomatous Polyposis 4
Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma OMIM:617100
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ... OMIM:619975
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Kyphosis, Abnormal rib morphology, Abnormal form of the ... ORPHA:2635
Gardner Syndrome
Duodenal polyposis, Astrocytoma, Brain neoplasm, Multiple gastric polyps, Papillary thyroid carci... ORPHA:79665
Muir-Torre Syndrome
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... OMIM:158320
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Tracheoesophageal fistula, Abnormal form of the vertebral bodies, Intest... ORPHA:93941
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroma, Adenomatous colonic polyposis... OMIM:175100
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verte... ORPHA:2234
Mosaic Trisomy 14
Short neck, Abnormal rib morphology, Cleft palate, Ectopic anus, High palate, Narrow chest, Failu... ORPHA:1703
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Muir-Torre Syndrome
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla... ORPHA:587
Diaphanospondylodysostosis
Short neck, Missing ribs, Short thorax, Cleft palate, Enlarged thorax, Absent or minimally ossifi... ORPHA:66637
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Steatorrhea OMIM:613291
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Lynch Syndrome
Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Glioblastoma multif... ORPHA:144
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Prominent floating ribs, Malabsorption OMIM:152800
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Anal stenosis, Abnormal odontoid process morphology, Block vertebrae, Missing r... OMIM:613686
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Neoplasm of the skeletal system, Rectal prolapse, Neoplasm of the rectum, Neoplasm... ORPHA:424019
Juvenile Nasopharyngeal Angiofibroma
Juvenile colonic polyposis ORPHA:289596
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Protein-losing enteropathy OMIM:619063
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga... ORPHA:733
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends ORPHA:168555
Mismatch Repair Cancer Syndrome 3
Glioblastoma multiforme, Astrocytoma, Lymphoma, T-cell lymphoma, Neoplasm of the rectum, Colon ca... OMIM:619097
Becker Nevus Syndrome
Hamartoma, Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosi... ORPHA:64755
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis OMIM:259440
Cowden Syndrome 7
Intestinal polyposis, Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, He... OMIM:616858
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... ORPHA:2869
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... ORPHA:2929
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... OMIM:615237
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Obesity, High pala... ORPHA:2180
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Obesity, Bell-shaped thorax, Thoracic dysplasia, Narrow chest, Horizontal ... OMIM:615633
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Septopreoptic Holoprosencephaly
Anteriorly placed anus, Abnormal rib morphology, Abnormal vertebral morphology, Dysphagia ORPHA:280195
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Malabsorption ORPHA:100025
Turcot Syndrome With Polyposis
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... ORPHA:99818
Hirschsprung Disease, Susceptibility To, 3
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon OMIM:613711
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Intestinal polyp ORPHA:457485
Cowden Syndrome 6
Colonic diverticula, Subcutaneous lipoma, Pectus excavatum, Kyphosis, Fibroadenoma of the breast,... OMIM:615109
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Cleft palate OMIM:602196
Cowden Syndrome 5
Colonic diverticula, Subcutaneous lipoma, Pectus excavatum, Kyphosis, Breast carcinoma, Furrowed ... OMIM:615108
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Aicardi Syndrome
Intestinal polyposis, Block vertebrae, Hiatus hernia, Malabsorption, Missing ribs, Rib fusion, Cl... ORPHA:50
Becker Nevus Syndrome
Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis OMIM:604919
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Abnormal rib... ORPHA:2522
Diarrhea 9
Villous atrophy OMIM:618168
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Neoplasm of the adrenal cortex, Abnormal large intestine morphology, Pectus... ORPHA:109
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Patent ductus arteriosus... OMIM:300048
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Axial Mesodermal Dysplasia Spectrum
Missing ribs, Short neck, Anorectal anomaly, Abnormal rib morphology, Tracheoesophageal fistula, ... ORPHA:1834
Oligodontia-Colorectal Cancer Syndrome
Fundic gland polyposis, Adenomatous colonic polyposis, Colon cancer OMIM:608615
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Clavicular pseudarthrosis, Cupped ribs, Hypoplasia of the... OMIM:156530
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Cleft palate, Scoliosis, Cervical C2/C3 vertebral fusion, Sp... OMIM:118100
Cap Polyposis
Hematochezia, Atrophic gastritis, Colorectal polyposis ORPHA:160148
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Short neck, Kyphosis, Sh... ORPHA:2311
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae OMIM:173800
Prune Belly Syndrome
Intestinal malrotation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation defect,... ORPHA:2970
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs OMIM:617405
Cowden Syndrome 1
Colonic diverticula, Subcutaneous lipoma, Pectus excavatum, Kyphosis, Fibroadenoma of the breast,... OMIM:158350
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... OMIM:175500
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ... ORPHA:276399
Cat-Eye Syndrome
Abnormal rib morphology, Anal atresia ORPHA:195
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Narrow chest ORPHA:93267
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Aplasia/Hypoplasia of the vertebrae, Flaring ... ORPHA:168549
Vascular Hyalinosis
Hematochezia, Protein-losing enteropathy, Malabsorption OMIM:277175
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Basal Cell Nevus Syndrome 1
Rhabdomyoma, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, Vertebral fusion, Odont... OMIM:109400
Fibrochondrogenesis 2
Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia OMIM:614524
Mccune-Albright Syndrome
Intestinal polyposis OMIM:174800
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules OMIM:619445
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal ... ORPHA:2759
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Intussusception
Intussusception OMIM:147710
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Intestinal malrotation ORPHA:3035
Lynch Syndrome 5
Neoplasm of the pancreas, Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endomet... OMIM:614350
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Rectal prolapse, Multiple gastric polyps, Breast carcinoma, Hamartomato... OMIM:175200
Femoral-Facial Syndrome
Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Cleft palate, Vertebral segmenta... ORPHA:1988
Diastrophic Dysplasia
Abnormal clavicle morphology, Kyphosis, Visceral angiomatosis, Abnormal rib morphology, Abnormal ... ORPHA:628
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Short neck, Obesity, Thin ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Narrow v... OMIM:618395
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology, Cleft palate OMIM:601076
Lynch Syndrome 4
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Anterior rib cupping, Hyperlordosis, Hypoplasia of the odontoid process, Cleft palate, Pectus car... OMIM:184250
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Fibrochondrogenesis
Hypoplastic scapulae, Short neck, Abnormal rib morphology, Abnormal form of the vertebral bodies,... ORPHA:2021
Juberg-Hayward Syndrome
Anteriorly placed anus, Abnormal rib morphology, Abnormal vertebral morphology, Scoliosis ORPHA:2319
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Cupped ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaki... OMIM:609616
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Abnormal sternum morphology,... ORPHA:474
Osteogenesis Imperfecta, Type Ii
Small for gestational age, Beaded ribs, Thin ribs, Bell-shaped thorax, Platyspondyly, Thoracic hy... OMIM:166210
Achondrogenesis Type 1B
Short thorax, Abnormal rib morphology, Narrow chest, Short neck ORPHA:93298
Campomelia, Cumming Type
Abnormally ossified vertebrae, Myelodysplasia, Abnormal thorax morphology, Abnormal rib morpholog... ORPHA:1318
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Short neck, Hyperlordosis, Sho... OMIM:612921
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ... OMIM:269250
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Cooper-Jabs Syndrome
Anteriorly placed anus, Abnormal rib morphology, Scoliosis, Missing ribs ORPHA:1488
Lethal Congenital Contracture Syndrome Type 1
Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck ORPHA:1486
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma, Dysphagia OMIM:606764
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1836
Meconium Ileus
Microcolon, Meconium ileus OMIM:614665
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... ORPHA:201
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... ORPHA:79076
Renpenning Syndrome
Cachexia, Pectus excavatum, High, narrow palate, Abnormal rib morphology, Cleft palate, Sprengel ... ORPHA:3242
Benign Schwannoma
Intestinal polyposis, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannom... ORPHA:252164
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue, Short neck,... ORPHA:958
White Forelock With Malformations
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology ORPHA:2475
Mucopolysaccharidosis, Type X
Spatulate ribs, Hyperlordosis, Broad clavicles, Platyspondyly, Posterior scalloping of vertebral ... OMIM:619698
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Hematochezia, Protein-losi... ORPHA:2070
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Cartilage-Hair Hypoplasia
Anal stenosis, Lumbar hyperlordosis, Aganglionic megacolon, Flaring of lower rib cage, Malabsorpt... OMIM:250250
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Renal neoplasm, Pancreatic adenocarcinoma, Glioblastoma multiforme, ... ORPHA:440437
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Short neck, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, ... OMIM:253000
Holt-Oram Syndrome
Abnormal clavicle morphology, Down-sloping shoulders, Pectus excavatum, Kyphosis, Abnormal rib mo... ORPHA:392
Osteogenesis Imperfecta, Type Xvi
Multiple rib fractures, Small for gestational age, Beaded ribs, Platyspondyly, Narrow chest, Vert... OMIM:616229
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Kyphosis, Macroglossia, Broad ribs, Failure to thrive ORPHA:583
Grant Syndrome
Sprengel anomaly, Abnormality of the glenoid fossa, Abnormal rib morphology, Narrow chest ORPHA:2097
Achondrogenesis, Type Ia
Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sacrum, Beaded ribs, Short neck, Protrudin... OMIM:200600
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma... ORPHA:97286
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Short thorax, Abnormal rib morphology, Spinal canal stenosis... ORPHA:582
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Ovoid vertebral bodies, Cupped ribs, Platyspondyly, Scoliosis, Severe platyspondyly OMIM:608940
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Abnormal rib morphology, Pectus carinatum ORPHA:93351
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Platyspondyly, Posterior rib cupp... OMIM:608728
Pancreatic Colipase Deficiency
Fat malabsorption, Steatorrhea ORPHA:309108
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Abnormal rib morphology, Tracheoesophageal fistula, Pectus carinatum ORPHA:3068
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Horizontal inferior border of scapula, Hypoplasia of the od... ORPHA:239
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Thin ribs, Wafer-thin platyspondy... OMIM:151210
Hypophosphatasia
Abnormal rib morphology, Narrow chest, Failure to thrive in infancy ORPHA:436
Medulloblastoma
Back pain, Adenomatous colonic polyposis, Medulloblastoma, Spinal cord tumor, Neoplasm of the lun... ORPHA:616
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, Short neck, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleedin... ORPHA:261584
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Neopl... ORPHA:424016
Achondrogenesis Type 1A
Multiple rib fractures, Short thorax, Narrow chest, Short neck ORPHA:93299
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Patent ductus arteriosus, Duodenal stenosis ORPHA:2547
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Small for gestational age, Anterior rib cupping, Ovoid vertebral bodies, ... OMIM:260400
Cerebrofaciothoracic Dysplasia
Short neck, Rib fusion, Hemivertebrae, Cleft palate, Vertebral segmentation defect, Narrow chest,... ORPHA:1394
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Cleft palate, Colon cancer, Stomach cancer, Duodenal atresia ORPHA:1052
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Small for gestational age, Short neck, Beaded ribs, Cleft palate, Platysp... OMIM:616897
Mitchell-Riley Syndrome
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, M... OMIM:615710
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Thoracic scoliosis, Pyloric stenosis, Thin ribs, Platyspondyly, Narrow ch... OMIM:613848
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy ORPHA:103910
3M Syndrome
Scapular winging, Short neck, Hyperlordosis, Increased vertebral height, Kyphosis, Short thorax, ... ORPHA:2616
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Abnormality of the costochondral junction, Atlantoaxial instability, Punctate ... ORPHA:79345
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Abnormal rib morphology, Short neck, Pectus carinatum ORPHA:3082
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Intestinal malrotation, Hamartoma of tongue, Thoracic hypoplasia, Lateral clavicle hook, Horizont... OMIM:613091
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Short neck, Cleft palate, Hypoplastic vertebral bodies, Coronal cleft verte... ORPHA:2347
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation OMIM:619431
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Short neck, Pectus excavat... ORPHA:77301
Alg1-Cdg
Abnormality of the gastrointestinal tract, Protein-losing enteropathy ORPHA:79327
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cupped ribs, High palate, Short ribs, Kyphoscoliosis ORPHA:1145
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Hydrocele testis, Protein-losing enteropathy OMIM:618154
Holzgreve Syndrome
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal rib morphology, Cleft p... ORPHA:2167
Fibrochondrogenesis 1
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Short neck, Thin clavicles, Cleft pal... OMIM:228520
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Esophageal varix, Gastrointestinal hemorrhage ORPHA:774
Chylomicron Retention Disease
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea OMIM:246700
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Colonic Atresia
Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Alg6-Cdg
Macroglossia, Protein-losing enteropathy ORPHA:79320
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Platyspondyly, Thin ribs OMIM:300863
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Thin ribs, ... OMIM:300232
Sacral Agenesis With Vertebral Anomalies
Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology, Anal atresia, Persisten... OMIM:615709
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Cleft palate, Short ribs, Horizontal ribs OMIM:200610
Trigonocephaly 1
High, narrow palate, Meckel diverticulum OMIM:190440
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs OMIM:122860
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Patent ductus arteriosus, Protein-losing enteropathy OMIM:608104
Dysosteosclerosis
Sclerotic scapulae, Increased intervertebral space, Hypoplastic vertebral bodies, Irregular verte... OMIM:224300
Melnick-Needles Syndrome
Short thorax, Abnormal rib morphology, Narrow chest, Short clavicles, Scoliosis, Anisospondyly ORPHA:2484
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperistalsis, Neoplasm of t... ORPHA:2241
Vacterl/Vater Association
Abnormal intervertebral disk morphology, Abnormal sacrum morphology, Anorectal anomaly, Abnormal ... ORPHA:887
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis ORPHA:1759
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Pectus excavatum, Submucous cleft hard palate, Supernumerary ribs, Six lumbar v... OMIM:619122
Dyggve-Melchior-Clausen Disease
Barrel-shaped chest, Hypoplastic scapulae, Lumbar hyperlordosis, Flaring of lower rib cage, Short... OMIM:223800
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Kyphoscoliosis, Ovoid thoracolumbar vertebrae, Dysphagia, Beaking of vertebral bo... OMIM:252930
Trisomy 13
Kyphosis, High, narrow palate, Abnormal rib morphology, Cleft palate, Narrow chest, Scoliosis, Ca... ORPHA:3378
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Megaduodenum, Hypoperistalsis OMIM:611376
Martinez-Frias Syndrome
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Duoden... OMIM:601346
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Intestinal malrotation, Hamartoma of tongue, Lateral clavicle hook, Cleft palate, Pectus carinatu... OMIM:263520
10Q22.3Q23.3 Microdeletion Syndrome
Intestinal polyposis ORPHA:276413
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology ORPHA:2643
Poland Syndrome
Aplasia/Hypoplasia of the sternum, Missing ribs, Short neck, Kyphosis, Retinal hamartoma, Abnorma... ORPHA:2911
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology, Cleft palate ORPHA:2145
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Cleft palate, Thin ribs OMIM:312150
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Pericardial And Diaphragmatic Defect
Patent ductus arteriosus, Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal ... ORPHA:2847
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:2050
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Protein-losing enteropathy, Steatorrhea OMIM:602579
Proximal 16P11.2 Microdeletion Syndrome
Pyloric stenosis, Rib fusion, Obesity, Cleft palate, Scoliosis, Failure to thrive, Abnormal verte... ORPHA:261197
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis OMIM:252900
Refractory Celiac Disease
Jejunitis, Villous atrophy, Protein-losing enteropathy, Malabsorption ORPHA:398063
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal thorax morphology, Abnormal form of the vertebral bodies, Thin ribs, Gastroesophageal re... ORPHA:73230
Alagille Syndrome
Failure to thrive, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral segm... ORPHA:52
Phaver Syndrome
Abnormal rib morphology, Butterfly vertebrae, Abnormal form of the vertebral bodies ORPHA:2876
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Ileal ulcer OMIM:616744
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Rib fusion, Posteri... OMIM:611209
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology, Anal atresia, Missing ribs ORPHA:3301
Cole-Carpenter Syndrome 2
Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, High palate OMIM:616294
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Biconvex vertebral bodies, Aganglionic megacolon, Sacral dimple, F... ORPHA:175
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Cleft palate, Thin ribs OMIM:253290
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Gastrointestinal carc... OMIM:175050
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Aicardi Syndrome
Block vertebrae, Hiatus hernia, Missing ribs, Rib fusion, Hemivertebrae, Cleft palate, Carcinoma,... OMIM:304050
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Small for gestational age, Thoracic hypoplasia, Large for gestational age ORPHA:254534
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Broad ribs, Failure to thrive in infancy, Flaring of rib cage, Fused cervical vertebrae OMIM:612852
Pontine Tegmental Cap Dysplasia
Failure to thrive, Rib fusion, Hemivertebrae, Scoliosis OMIM:614688
Duodenal Atresia
Duodenal atresia OMIM:223400
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis, Thin ribs OMIM:259420
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon OMIM:155310
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Hematochez... ORPHA:70475
Dextrocardia
Neuroblastoma, Meckel diverticulum, Abnormal rib morphology, Intestinal malrotation ORPHA:1666
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Decreased body weight, Cleft palate, Thin ribs OMIM:618265
Aspergillosis
Abnormality of the vertebral column, Abnormal rib morphology, Abnormal esophagus morphology, Hema... ORPHA:1163
Mpi-Cdg
Gastrointestinal hemorrhage, Protein-losing enteropathy ORPHA:79319
Mednik Syndrome
Volvulus, Jejunal atresia, Microcolon OMIM:609313
Osteogenesis Imperfecta, Type Xviii
Vertebral compression fracture, Biconcave vertebral bodies, Thin ribs OMIM:617952
Cleidocranial Dysplasia
Hypoplastic scapulae, Down-sloping shoulders, High, narrow palate, Abnormal sacrum morphology, Ab... ORPHA:1452
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Patent ductus arteriosus, Rectal atresia, ... OMIM:115470
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Intestinal malrotation, Patent ductus arteriosus, Tracheoesophageal fistul... ORPHA:210122
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology ORPHA:2772
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae OMIM:252920
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyl... OMIM:253010
Gm1-Gangliosidosis, Type I
Thickened ribs, Short neck, Kyphosis, Hypoplastic vertebral bodies, Scoliosis, Beaking of vertebr... OMIM:230500
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... OMIM:115310
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia ORPHA:163961
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Lumbar hyperlordosis, Cupped ribs, Flat glenoid fossa, Obesity, Irregular chondrocostal junctions... OMIM:250420
Cenani-Lenz Syndrome
High, narrow palate, Scoliosis, Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:3258
Cerebrocostomandibular Syndrome
Rib gap, 10 pairs of ribs, Anal stenosis, 11 pairs of ribs, Anomalous rib insertion to vertebrae,... OMIM:117650
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption OMIM:600955
Mosaic Trisomy 8
Short neck, Abnormal rib morphology, Cleft palate, Vertebral segmentation defect, High palate, Na... ORPHA:96061
Microphthalmia, Syndromic 3
Vertebral fusion, Missing ribs, Esophageal atresia, Rib fusion, Hemivertebrae, Supernumerary ribs... OMIM:206900
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Narrow chest, Horizontal ribs OMIM:617895
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1120
Greenberg Dysplasia
Barrel-shaped chest, 11 pairs of ribs, Sternal punctate calcifications, Long clavicles, Abnormal ... OMIM:215140
Autosomal Dominant Centronuclear Myopathy
Pyloric stenosis, Cavernous hemangioma, Thin ribs ORPHA:169189
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon OMIM:619362
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
High palate, Thin ribs ORPHA:456328
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad ribs, High palate, Vertebral arch anomaly ORPHA:85184
Microvillus Inclusion Disease
Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Decreased body weight, Thin ribs OMIM:614833
Radio-Renal Syndrome
High, narrow palate, Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck ORPHA:3015
Cantú Syndrome
Ovoid vertebral bodies, Short neck, Cuboid-shaped vertebral bodies, Platyspondyly, Narrow chest, ... ORPHA:1517
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Broad ribs, Abnormal sternum morphology, Abnormal rib morphology, Short ribs ORPHA:2519
Kagami-Ogata Syndrome
Kyphoscoliosis, Short neck, Large for gestational age, Bell-shaped thorax, Coat hanger sign of ri... ORPHA:254519
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Thin ribs ORPHA:163966
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra... ORPHA:2769
Trisomy 1Q
Anal atresia, Short thorax, Abnormal rib morphology, Cleft palate ORPHA:261344
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Bell-shaped thorax, Failure to thrive, Horizontal ribs OMIM:614857
Occipital Horn Syndrome
Pelvic bone exostoses, Hiatus hernia, Broad clavicles, Pectus excavatum, Kyphosis, Bladder carcin... OMIM:304150
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Intestinal malrotation, Hamartoma of tongue, Short neck, Short thorax, Lobu... OMIM:269860
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Acholic stools, Steatorrhea OMIM:607765
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Esophageal diverticulum, Hamartoma of tongue, Lateral clavicle hook, Horizontal ribs, Short neck,... OMIM:617925
Multiple Pterygium-Malignant Hyperthermia Syndrome
Pectus excavatum, Kyphosis, Abnormal rib morphology, Cleft palate, Capillary hemangioma, Scoliosis ORPHA:2215
Schwartz-Jampel Syndrome
Abnormally ossified vertebrae, Shoulder flexion contracture, Cachexia, Hyperlordosis, Pectus exca... ORPHA:800
Fg Syndrome Type 1
Sacral dimple, Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Abnor... ORPHA:93932
Cholestasis, Progressive Familial Intrahepatic, 2
Fat malabsorption, Hepatocellular carcinoma OMIM:601847
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Short neck, Narrow palate, Macroglossia, High palate, Narrow chest, Broad ribs OMIM:617022
Autosomal Recessive Multiple Pterygium Syndrome
Failure to thrive, Pectus excavatum, Rib fusion, Cleft palate, Abnormal sternum morphology, Verte... ORPHA:2990
Bent Bone Dysplasia Syndrome 2
Short neck, Thin ribs, Coronal cleft vertebrae, Platyspondyly, Short sternum, Short ribs, Butterf... OMIM:620076
Hurler Syndrome
Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Spinal canal stenosis, Macrogl... ORPHA:93473
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Testicular neoplasm, Cutaneous myxoma, Abnormal rib morphology, Abn... ORPHA:249
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Eunuchoid habitus, Pectus excavatum, Thin ribs, High palate, Lumbar hemivertebrae ORPHA:2463
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Kyphosis, Thin ribs, Platyspondyly, Scoliosis, Vertebral compression fracture OMIM:610915
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Vertebral fusion, Sacral dimple, Short neck, Pectus excavatum, Large... OMIM:213980
Meier-Gorlin Syndrome 1
Absent sternal ossification, Small for gestational age, Lateral clavicle hook, Flat glenoid fossa... OMIM:224690
Mucolipidosis Iii Alpha/Beta
Broad ribs, Short ribs, Scoliosis OMIM:252600
Oculocerebrocutaneous Syndrome
Exostoses, Abnormal rib morphology, Missing ribs ORPHA:1647
Congenital Myopathy 22B, Severe Fetal
Scapular winging, Thoracic scoliosis, Shoulder flexion contracture, Short neck, Pectus excavatum,... OMIM:620369
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Undulate ribs, Cleft palate, Platyspondyly, Thoracic... OMIM:211350
Lethal Congenital Contracture Syndrome 5
Small for gestational age, Thin ribs OMIM:615368
Cog1-Cdg
Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior rib gap, Vert... ORPHA:263508
Kagami-Ogata Syndrome
Bell-shaped thorax, Long clavicles, Kyphoscoliosis, Thin ribs OMIM:608149
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Kyphoscoliosis, Missing ribs, Hemivertebrae, Narrow palate, Thin ribs, High... OMIM:200980
Gracile Bone Dysplasia
Failure to thrive, Ankyloglossia, Thin ribs OMIM:602361
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Pyloric stenosis, Meckel diverticulum OMIM:616395
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Patent ductus arteriosus, Microcolon, Ileal atresia OMIM:619351
Antley-Bixler Syndrome
Abnormal rib morphology, Narrow chest, Cleft palate ORPHA:83
Otopalatodigital Syndrome Type 2
Failure to thrive, Abnormal rib morphology, Cleft palate, Glossoptosis, Narrow chest, Scoliosis, ... ORPHA:90652
Autosomal Dominant Popliteal Pterygium Syndrome
Cleft palate, Abnormal rib morphology, Scoliosis ORPHA:1300
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Horizontal ribs, Thoracic platysp... OMIM:618019
Serkal Syndrome
Malrotation of small bowel ORPHA:139466
Frontometaphyseal Dysplasia 1
Scapular winging, Cleft palate, Fused cervical vertebrae, Coat hanger sign of ribs, High palate, ... OMIM:305620
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Abnormal rib morphology, Narrow chest, Abnormal scapula morphology ORPHA:93317
Congenital Tracheal Stenosis
Abnormal stomach morphology, Patent ductus arteriosus, Tracheoesophageal fistula, Duodenal stenos... ORPHA:141127
Shprintzen-Goldberg Craniosynostosis Syndrome
Lateral clavicle hook, Pectus excavatum, Narrow palate, Pectus carinatum, Thin ribs, Gastroesopha... OMIM:182212
Craniometadiaphyseal Dysplasia
Broad ribs, High palate, Scoliosis OMIM:269300
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hamartoma of tongue, Horizontal ribs, Cleft palate, Bell-shaped thorax, Lobulated tongue, Narrow ... OMIM:616300
Multiple Pterygium Syndrome, Escobar Variant
Exostosis of the external auditory canal, Long clavicles, Thoracolumbar scoliosis, Down-sloping s... OMIM:265000
Severe Congenital Nemaline Myopathy
Thin ribs, Abnormal thorax morphology, Dysphagia ORPHA:171430
Cholestasis, Progressive Familial Intrahepatic, 1
Fat malabsorption OMIM:211600
Mucopolysaccharidosis, Type Vi
Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging of L2, Hypoplasia ... OMIM:253200
Kindler Epidermolysis Bullosa
Esophageal stricture, Abnormal rib morphology, Neoplasm of the urethra, Squamous cell carcinoma, ... ORPHA:2908
Osteopathia Striata With Cranial Sclerosis
Anal stenosis, Intestinal malrotation, Pectus excavatum, Cleft palate, Straight clavicles, Gastro... OMIM:300373
Xylt1-Cdg
Broad ribs, Truncal obesity, Short clavicles, Cleft palate ORPHA:370930
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Fat malabsorption OMIM:214950
Scedosporiosis
Abnormal jejunum morphology ORPHA:449280
Pyknoachondrogenesis
Short thorax, Poorly ossified vertebrae, Enlarged thorax, Unossified sacrum, Short ribs, Horizont... ORPHA:3003
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
11 pairs of ribs, Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Cupped ribs, Cleft palate, ... OMIM:271640
Oculoskeletodental Syndrome
Macroglossia, Protein-losing enteropathy, Cryptorchidism OMIM:618440
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, High palate, Protein-losing enteropathy, Cleft palate OMIM:235255
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption ORPHA:79302
Kenny-Caffey Syndrome, Type 1
Thin clavicles, Long clavicles, Thin ribs OMIM:244460
Myotubular Myopathy With Abnormal Genital Development
High palate, Thin ribs OMIM:300219
Mucopolysaccharidosis, Type Iiid
Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Ovoid thoracolumbar vertebrae, H... OMIM:252940
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cryptorchidism, Rectal prolapse, Narrow palate, Protein-losing enteropathy, Intestinal lymphangie... OMIM:235510
Chylomicron Retention Disease
Fat malabsorption, Steatorrhea ORPHA:71
Sclerosteosis 1
Broad ribs, Sclerotic vertebral endplates, Sclerotic scapulae, Broad clavicles OMIM:269500
Hallermann-Streiff Syndrome
Small for gestational age, Hyperlordosis, Pectus excavatum, High, narrow palate, Narrow palate, T... OMIM:234100
Autosomal Recessive Kenny-Caffey Syndrome
Thin clavicles, Thin ribs ORPHA:93324
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Ileus, Aganglionic megacolon, Microcolon ORPHA:163746
Acrocapitofemoral Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Pectus excavatum, Cupped ribs, Pectus carinatum, Sh... OMIM:607778
Hyperparathyroidism, Transient Neonatal
Undulate ribs, Thin ribs, Gastroesophageal reflux, Short ribs, Narrow chest, Fractured rib OMIM:618188
Osteogenesis Imperfecta
Multiple rib fractures, Intestinal obstruction, Small for gestational age, Cervical kyphosis, Pec... ORPHA:666
Netherton Syndrome
Villous atrophy, Recurrent infection of the gastrointestinal tract, Intestinal atresia OMIM:256500
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Colitis, Malabsorption OMIM:209920
Fanconi Anemia, Complementation Group D2
Esophageal atresia, Patent ductus arteriosus, Cryptorchidism, Prolonged G2 phase of cell cycle, T... OMIM:227646
Congenital Bile Acid Synthesis Defect Type 2
Fat malabsorption, Steatorrhea ORPHA:79303
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Sacral dimple, Kyphosis, Abnormal thorax morphology, Rib fusion, ... ORPHA:280
Beckwith-Wiedemann Syndrome
Nephroblastoma, Rhabdomyosarcoma, Adrenocortical carcinoma, Cleft palate, Leiomyosarcoma, Macrogl... ORPHA:116
Carney Triad
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenom... ORPHA:139411
Fryns Syndrome
Aganglionic megacolon, Intestinal malrotation, Thoracic hypoplasia, Short neck, Esophageal atresi... OMIM:229850
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Spinal canal stenosis, Narrow palate, Scoliosis, Broad ribs OMIM:277600
Van Den Ende-Gupta Syndrome
Sacral dimple, Hypoplastic scapulae, Glenoid fossa hypoplasia, Lateral clavicle hook, Pectus exca... OMIM:600920
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Abnormal small intestinal villus morphology, Increased stool alpha1-... ORPHA:90362
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Long clavicles, Short neck, Hypoplasia of first ribs, Macroglossia, Shor... OMIM:269150
Campomelic Dysplasia
11 pairs of ribs, Poorly ossified cervical vertebrae, Thoracic scoliosis, Absent sternal ossifica... OMIM:114290
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Celiac disease, Sacral dimple, Rib fusion, Large for gestational age ORPHA:544488
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Nephroblastoma, Short neck, Pectus excavatum, High, narrow palate, Abnormal rib... ORPHA:373
Immunodeficiency 31C
Gastrointestinal eosinophilia, Villous atrophy, Protein-losing enteropathy, Intussusception OMIM:614162
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cupped ribs, Platyspondyly, Ovoid vertebral bodies, Scoliosis ORPHA:85167
Kbg Syndrome
Vertebral fusion, Short neck, Rib fusion, Vertebral arch anomaly, Cervical ribs, Thoracic kyphosis OMIM:148050
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Pectus excavatum, Macroglossia, Prominent sternum, Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254528
Robinow Syndrome, Autosomal Recessive 1
Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Short neck, Pectus excavatum, Miss... OMIM:268310
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Cryptorchidism, High palate, Protein-losing enteropathy ORPHA:1655
Lenz-Majewski Hyperostotic Dwarfism
Failure to thrive, Broad clavicles, Hemivertebrae, Cleft palate, Anteriorly placed anus, Broad ri... OMIM:151050
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Malabsorption, Abnormal rib morphology, Abnormal form of the verteb... ORPHA:581
Nestor-Guillermo Progeria Syndrome
Thin ribs, Rib osteolysis, Progressive clavicular acroosteolysis, Scoliosis, Failure to thrive OMIM:614008
Restrictive Dermopathy
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Thin clavicles, Submucous cleft har... ORPHA:1662
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... ORPHA:512
Vater/Vacterl Association
Esophageal atresia, Abnormal rib morphology, Tracheoesophageal fistula, Abnormal sternum morpholo... OMIM:192350
Hereditary Acrokeratotic Poikiloderma
Abnormality of the gastrointestinal tract, Abnormal rib morphology, Xerostomia, Squamous cell car... ORPHA:2907
Tarp Syndrome
Cleft palate, Tongue nodules, Glossoptosis, High palate, Meckel diverticulum OMIM:311900
Myhre Syndrome
Submucous cleft hard palate, Abnormal rib morphology, Cleft palate, Platyspondyly, Bifid uvula ORPHA:2588
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Intestinal malrotation, Cervical ribs, Microcolon OMIM:600001
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Sacrococcygeal teratoma, Aganglionic megacolon, Nephroblastoma, Kyp... ORPHA:798
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Long clavicles, Anterior rib cupping, Kyphoscoliosis, Short neck, Pectus ex... ORPHA:96334
Autosomal Recessive Robinow Syndrome
Sacral dimple, Short neck, Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Vertebral se... ORPHA:1507
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Intestinal malrotation, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistula, ... OMIM:265380
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Short neck, Facial capillary hemangioma, Pyloric stenosis, Kyphosis, Abnor... ORPHA:818
Trisomy 18
Esophageal atresia, Abnormal rib morphology, Narrow palate, Cleft palate, Anal atresia ORPHA:3380
Premature Aging Syndrome, Penttinen Type
Failure to thrive, Cervical ribs, Scoliosis, Thin ribs OMIM:601812
Pallister-Hall Syndrome
Midline facial capillary hemangioma, Rib fusion, Hemivertebrae, Cleft palate, Anteriorly placed a... OMIM:146510
Spondylometaphyseal Dysplasia, Sedaghatian Type
11 pairs of ribs, Short neck, Cupped ribs, Horizontal inferior border of scapula, Platyspondyly, ... OMIM:250220
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Cryptorchidism, Protein-losing enteropathy OMIM:618183
Robinow Syndrome
Fused thoracic vertebrae, Small for gestational age, Kyphoscoliosis, Missing ribs, Rib fusion, He... ORPHA:97360
Monosomy 9P
Short neck, Abnormal rib morphology, Cleft palate, Abnormality of the vertebral column, High pala... ORPHA:261112
Ellis-Van Creveld Syndrome
Short ribs, Narrow chest, Horizontal ribs, Pectus carinatum OMIM:225500
Tarp Syndrome
Cryptorchidism, Cleft palate, Glossoptosis, Abnormal duodenum morphology, Tongue nodules ORPHA:2886
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, High, narrow palate, Abnormal rib morphology, Anteriorly placed anus, Gastr... ORPHA:95699
Femoral-Facial Syndrome
Missing ribs, Absent vertebra, Rib fusion, Hemivertebrae, Cleft palate, Gastroesophageal reflux, ... OMIM:134780
Zttk Syndrome
Kyphosis, Submucous cleft hard palate, Rib fusion, Hemivertebrae, Cervical ribs, High palate, Sco... OMIM:617140
Mosaic Trisomy 16
Anteriorly placed anus, Abnormality of the gastrointestinal tract, Patent ductus arteriosus, Meck... ORPHA:1708
Musculocontractural Ehlers-Danlos Syndrome
Cryptorchidism, Malrotation of small bowel, High palate, Cleft palate ORPHA:2953
Whim Syndrome
Abnormal small intestine morphology, Parotitis ORPHA:51636
X-Linked Hypophosphatemia
Beaded ribs, Enlargement of the costochondral junction, Sacroiliac joint synovitis, Vertebral hyp... ORPHA:89936
Alagille Syndrome 1
Abnormal rib morphology, Hemivertebrae, Papillary thyroid carcinoma, Failure to thrive, Butterfly... OMIM:118450
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Myelodysplasia, Glomus jugular tumor... ORPHA:97685
Stuve-Wiedemann Syndrome 1
Ovoid vertebral bodies, Short neck, Thin ribs, Smooth tongue, Scoliosis OMIM:601559
Pseudo-Torch Syndrome 2
Thin ribs OMIM:617397
Ear-Patella-Short Stature Syndrome
Aplastic clavicle, High, narrow palate, Submucous cleft hard palate, Abnormal rib morphology, Cle... ORPHA:2554
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine OMIM:200995
Myhre Syndrome
Vertebral fusion, Small for gestational age, Short neck, Obesity, Cleft palate, Enlarged vertebra... OMIM:139210
Camptodactyly Syndrome, Guadalajara Type 3
Spina bifida occulta, Abnormal rib morphology, Short neck ORPHA:488434
Eiken Syndrome
Broad ribs, Decreased body weight OMIM:600002
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Small for gestational age, Kypho... OMIM:194190
Matthew-Wood Syndrome
Cryptorchidism, Duodenal stenosis ORPHA:2470
Weill-Marchesani Syndrome 2
Lumbar hyperlordosis, Spinal canal stenosis, Narrow palate, High palate, Scoliosis, Broad ribs OMIM:608328
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Pyloric stenosis, Cleft palate, Cleft vertebral arch, Thin ribs, Fused cervical v... ORPHA:83617
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Broad ribs, Obesity, Cleft palate, Hyperlordosis OMIM:301066
Oculocerebrorenal Syndrome Of Lowe
Benign neoplasm of the central nervous system, Malabsorption, Kyphosis, Abnormal rib morphology, ... ORPHA:534
Fanconi Anemia
Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Cryptorchidism, Patent ductus arteriosus,... ORPHA:84
Alpha-Mannosidosis, Infantile Form
Thickened ribs, Short neck, Pectus excavatum, Pectus carinatum, Macroglossia, Platyspondyly, Recu... ORPHA:309282
1P36 Deletion Syndrome
11 pairs of ribs, Pyloric stenosis, Kyphosis, Rib fusion, Spinal canal stenosis, Gastroesophageal... ORPHA:1606
Fanconi Anemia, Complementation Group E
Cryptorchidism, Prolonged G2 phase of cell cycle OMIM:600901
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Thoracic dysplasia, Short ribs, Narrow chest, Horizontal ribs OMIM:208500
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Aplasia of the epiglottis, Short ribs, Narrow chest, Short clavicles, Hamartoma, Horizontal ribs OMIM:617088
Ulbright-Hodes Syndrome
Short neck, Abnormal rib morphology, Ovoid thoracolumbar vertebrae, Thin ribs, Short sternum, Sho... ORPHA:3404
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Pectus excavatum, Narrow chest, Scoliosis, Vertebral compression fracture OMIM:610682
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Lymphoma, Anal atresia ORPHA:1572
Fanconi Anemia, Complementation Group A
Cryptorchidism, Prolonged G2 phase of cell cycle OMIM:227650
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Kyphoscoliosis, Thin ribs, Platyspondyly, Progressive congenital sco... OMIM:225400
Zygomycosis
Gastrointestinal hemorrhage, Gastritis, Hematemesis, Enterocolitis, Hematochezia, Melena, Unusual... ORPHA:73263
Maternal Uniparental Disomy Of Chromosome 4
Fat malabsorption ORPHA:96180
Fanconi Anemia, Complementation Group C
Cryptorchidism, Prolonged G2 phase of cell cycle OMIM:227645
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, High palate, Abnormal duoden... OMIM:601776
Fraser Syndrome 1
Cryptorchidism, Abnormal small intestine morphology, Cleft palate, Abnormality of the anus OMIM:219000
Fetal Akinesia Deformation Sequence 1
Small for gestational age, Short neck, High, narrow palate, Cleft palate, Thin ribs, High palate,... OMIM:208150
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Esophageal varix, Protein-losing enteropathy, He... ORPHA:731
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Barrel-shaped chest, Pilonidal sinus, Broad clavicles, Congenital pseudoarthrosis of the clavicle... OMIM:276820
Isolated Biliary Atresia
Acholic stools, Fat malabsorption ORPHA:30391
Charge Syndrome
Abnormal soft palate morphology, Abnormal rib morphology, Tracheoesophageal fistula, Cleft palate... ORPHA:138
Baller-Gerold Syndrome
Rib fusion, Cleft palate, Perineal fistula, Anteriorly placed anus, Rectovaginal fistula, High pa... OMIM:218600
Cranioectodermal Dysplasia 2
Short neck, Pectus excavatum, Cleft palate, High palate, Short ribs, Narrow chest, Horizontal ribs OMIM:613610
Craniotubular Dysplasia, Ikegawa Type
Increased intervertebral space, Broad ribs, Platyspondyly OMIM:619727
Cardiospondylocarpofacial Syndrome
Rib fusion, Fused cervical vertebrae, Herniation of intervertebral nuclei, Scoliosis, Failure to ... OMIM:157800
Charge Syndrome
Anal stenosis, Down-sloping shoulders, Esophageal atresia, Abnormal rib morphology, Tracheoesopha... OMIM:214800
Abetalipoproteinemia
Fat malabsorption, Steatorrhea ORPHA:14
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Short neck, Pectus excavatum, Undulate ribs, High palate, Short clavicles OMIM:609945
Thrombocytopenia-Absent Radius Syndrome
Patent ductus arteriosus, Meckel diverticulum, Cleft palate OMIM:274000
Trisomy 8P
Cryptorchidism, Malrotation of small bowel, Bifid uvula, Cleft palate ORPHA:264450
Shwachman-Diamond Syndrome
Abnormality of the gastrointestinal tract, Fat malabsorption, Steatorrhea ORPHA:811
Townes-Brocks Syndrome
Rectoperineal fistula, Abnormal rib morphology, Anteriorly placed anus, Rectovaginal fistula, Abn... ORPHA:857
Mucopolysaccharidosis Type 2, Severe Form
Macroglossia, Thickened ribs, Abnormal vertebral morphology, Spinal canal stenosis ORPHA:217085
Osteopetrosis With Renal Tubular Acidosis
Pectus excavatum, High palate, Failure to thrive, Prominent floating ribs ORPHA:2785
Mucopolysaccharidosis Type 2, Attenuated Form
Macroglossia, Thickened ribs, Abnormal vertebral morphology, Spinal canal stenosis ORPHA:217093
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Failure to thrive in infancy, Kyphoscoliosis, Rib fusion, Hemivertebrae, Cl... ORPHA:500150
Mandibuloacral Dysplasia Progeroid Syndrome
Pectus excavatum, High palate, Supernumerary ribs, Thin ribs OMIM:619127
Pagod Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:991
Liver Disease, Severe Congenital
Hydrocele testis, Chronic gastritis, Patent ductus arteriosus, Protein-losing enteropathy OMIM:619991
Viss Syndrome
Chronic gastritis, Duodenitis, Intestinal malrotation, Cleft soft palate, Submucous cleft soft pa... OMIM:619472
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Small bowel diverticula ORPHA:90349
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Submucous cleft hard palate, Rib fusion, Obesity, High palate, Scoliosis, Bifid... OMIM:607872
Coccidioidomycosis
Broad ribs, Abnormality of the vertebral column ORPHA:228123
Autosomal Recessive Malignant Osteopetrosis
Abnormal rib morphology, Narrow chest ORPHA:667
Wiedemann-Rautenstrauch Syndrome
Small for gestational age, Short neck, Thin ribs, Narrow chest, Scoliosis, Failure to thrive OMIM:264090
Pallister-Hall Syndrome
Osteochondroma, Midline facial capillary hemangioma, Large for gestational age, Rib fusion, Hemiv... ORPHA:672
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Intestinal malrotation, Cryptorchidism, Patent ductus arteriosu... OMIM:312870
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures OMIM:612301
Genitopatellar Syndrome
Anal stenosis, Cryptorchidism, Malrotation of small bowel, Anteriorly placed anus, Dysphagia, Ana... 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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