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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Lynch Syndrome I
Colon cancer OMIM:120435
Colorectal Cancer, Hereditary Nonpolyposis, Type 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, Juvenile colonic polyposis, Colon ... OMIM:610069
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Hereditary nonpolyposis colorectal carcinoma OMIM:613244
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Polyposis, Intestinal, With Multiple Exostoses
Multiple exostoses, Intestinal polyposis OMIM:175450
Familial Adenomatous Polyposis 4
Thyroid adenoma, Stomach cancer, Papilloma, Astrocytoma OMIM:617100
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer 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
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Colorectal polyposis, Large intestinal polyposis, ... ORPHA:247798
Paraganglioma And Gastric Stromal Sarcoma
Neoplasm of the gastrointestinal tract, Paraganglioma 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, Gastric diverticulum, Prostate cancer, Ovarian neoplasm, Germ cell neopla... ORPHA:157798
Mismatch Repair Cancer Syndrome 4
Non-Hodgkin lymphoma, Glioblastoma multiforme, Adenomatous colonic polyposis, Astrocytoma, Colon ... OMIM:619101
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormality of the gastric mucosa OMIM:175505
Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Fibroma, Uterine leiomyoma, Colorectal polyposis, ... ORPHA:220460
Colorectal Cancer
Renal cell carcinoma, Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma, Tran... OMIM:114500
Li-Fraumeni Syndrome 2
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Msh3-Related Attenuated Familial Adenomatous Polyposis
Multiple gastric polyps, Colon cancer, Ovarian dermoid cyst, Neoplasm of the rectum, Uterine leio... ORPHA:480536
Hereditary Mixed Polyposis Syndrome
Rectal polyposis, Neoplasm of the gastrointestinal tract, Prostate cancer, Adenocarcinoma of the ... ORPHA:157794
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Birt-Hogg-Dube Syndrome
Fibrofolliculoma, Renal neoplasm, Trichodiscoma, Cutaneous leiomyoma, Renal cell carcinoma, Multi... OMIM:135150
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Polymerase Proofreading-Related Adenomatous Polyposis
Adenocarcinoma of the colon, Neoplasm of the rectum, Endometrial carcinoma, Colorectal polyposis,... ORPHA:447877
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Multiple gastric polyps, Rectal polyposis, Hematochezia, Small intestinal polyposis, Adenomatous ... ORPHA:329971
Gastroesophageal Reflux
Esophagitis, Gastroesophageal reflux, Barrett esophagus, Esophageal neoplasm OMIM:109350
Ganglioneuroma
Functional intestinal obstruction, Ganglioneuroma, Gastrointestinal hemorrhage, Neoplasm of the a... ORPHA:251992
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, Colon cancer, T-cell acute lymphoblastic leukemias OMIM:619096
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma OMIM:619182
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Nk-Cell Enteropathy
Lymphoproliferative disorder, Gastric ulcer, Hematochezia, Gastroesophageal reflux, Abnormality o... ORPHA:263665
Punctate Palmoplantar Keratoderma Type 1
Hodgkin lymphoma, Renal cell carcinoma, Breast carcinoma, Transitional cell carcinoma of the blad... ORPHA:79501
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Non-Hodgkin lymphoma, Neoplasm of the rectum, Endometrial carcinoma, Mening... ORPHA:454840
Desmoid Tumor
Gastrointestinal hemorrhage, Fibroma, Desmoid tumors, Intestinal polyposis, Malabsorption, Intest... ORPHA:873
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Muir-Torre Syndrome
Laryngeal carcinoma, Renal neoplasm, Salivary gland neoplasm, Endometrial carcinoma, Neoplasm of ... ORPHA:587
Hirschsprung Disease
Neoplasm of the thyroid gland, Aganglionic megacolon, Functional abnormality of the gastrointesti... ORPHA:388
Gastric Cancer, Hereditary Diffuse
Neoplasm, Stomach cancer, Chronic atrophic gastritis, Cleft palate OMIM:137215
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Scoliosis, Abnormality of the ribs, Pectus carinatum ORPHA:3268
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... ORPHA:247806
Neurogenic Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:100073
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Rib fusion, Vertebral segmenta... OMIM:609813
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Neoplasm, Furrowed tongue, Stomach cancer, Intestinal polyposis, Hama... ORPHA:2930
Colorectal Cancer, Hereditary Nonpolyposis, Type 5
Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma OMIM:614350
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Isolated Klippel-Feil Syndrome
Scoliosis, Abnormality of the vertebral column, Sprengel anomaly, Cervical C2/C3 vertebral fusion... ORPHA:2345
Spondylocostal Dysostosis 2, Autosomal Recessive
Rib fusion, Hemivertebrae, Short neck, Vertebral segmentation defect, Vertebral clefting OMIM:608681
Barrett Esophagus
Esophageal carcinoma, Esophageal ulceration, Gastroesophageal reflux, Barrett esophagus OMIM:614266
Carcinoma Of Esophagus
Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, Abnormal intestine morphology, Barrett e... ORPHA:70482
Autosomal Dominant Spondylocostal Dysostosis
Scoliosis, Hyperlordosis, Short thorax, Posterior rib fusion, Missing ribs, Spina bifida occulta,... ORPHA:1797
Gardner Syndrome
Adrenocortical adenoma, Ampulla of Vater carcinoma, Fibrosarcoma, Adenomatous colonic polyposis, ... ORPHA:79665
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, Kyph... OMIM:277300
Muir-Torre Syndrome
Laryngeal carcinoma, Basal cell carcinoma, Carcinoma, Sebaceous gland carcinoma, Adenoma sebaceum... OMIM:158320
Spondylocostal Dysostosis 4, Autosomal Recessive
Short thorax, Rib fusion, Hemivertebrae, Vertebral fusion, Abnormality of the odontoid process, M... OMIM:613686
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Juvenile Nasopharyngeal Angiofibroma
Juvenile nasopharyngeal angiofibroma, Juvenile colonic polyposis ORPHA:289596
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Esophageal neoplasm, Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Papil... ORPHA:523
Sprengel Deformity
Scoliosis, Cervical segmentation defect, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, R... OMIM:184400
Jejunal Atresia
Jejunal atresia OMIM:243600
Endosteal Hyperostosis, Worth Type
Abnormality of the ribs, Sclerotic vertebral body, Clavicular sclerosis, Abnormal form of the ver... ORPHA:2790
Spondylocostal Dysostosis 5
Scoliosis, Posterior rib fusion, Low back pain, Pectus carinatum, Supernumerary ribs, Hemivertebr... OMIM:122600
Cowden Syndrome 7
Hemangioma, Ductal carcinoma in situ, Intestinal polyposis, Breast carcinoma, Trichilemmoma, Papi... OMIM:616858
Squamous Cell Carcinoma Of The Anal Canal
Intestinal bleeding, Anal stenosis, Neoplasm of the rectum, Neoplasm of the liver, Rectal prolaps... ORPHA:424019
Lynch Syndrome
Basal cell carcinoma, Ovarian neoplasm, Colon cancer, Benign neoplasm of the central nervous syst... ORPHA:144
Heart Defects-Limb Shortening Syndrome
Abnormality of the ribs, Kyphosis, Narrow chest, Abnormal form of the vertebral bodies ORPHA:1354
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Short thorax, Narrow chest, Abnormal form of the ver... ORPHA:1801
Inflammatory Bowel Disease (Crohn Disease) 30
Esophagitis, Duodenitis, Ileitis, Protein-losing enteropathy, Pancolitis, Gastritis, Abnormal int... OMIM:619079
Thoracolaryngopelvic Dysplasia
Scoliosis, Slender build, Horizontal ribs, Irregular vertebral endplates, Bell-shaped thorax, Sho... OMIM:187760
Chronic Intestinal Pseudoobstruction
Abnormal intestine morphology, Pyloric stenosis, Patent ductus arteriosus, Intestinal malrotation ORPHA:2978
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormality of the ribs ORPHA:2435
Metatropic Dysplasia
Scoliosis, Hypoplastic cervical vertebrae, Narrow chest, Abnormal form of the vertebral bodies, K... ORPHA:2635
Familial Adenomatous Polyposis 1
Multiple gastric polyps, Medulloblastoma, Adrenocortical adenoma, Carcinoma, Fibroma, Osteoma, Sm... OMIM:175100
Mismatch Repair Cancer Syndrome 3
Lisch nodules, Neoplasm of the rectum, Glioblastoma multiforme, Lymphoma, T-cell lymphoma, Astroc... OMIM:619097
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, Abnormal la... ORPHA:2198
Congenital Short Bowel Syndrome
Decreased intestinal transit time, Abnormal peristalsis, Intestinal malrotation, Steatorrhea, Con... OMIM:615237
Laryngotracheoesophageal Cleft Type 4
Abnormality of the ribs, Tracheoesophageal fistula, Intestinal atresia, Abnormal form of the vert... ORPHA:93941
Turcot Syndrome With Polyposis
Melena, Adenomatous colonic polyposis, Neoplasm of the central nervous system, Pilomatrixoma, Cer... ORPHA:99818
Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Endometrial carcinoma, Ovarian neoplasm, Hereditary nonpolyposis colorectal carcinoma OMIM:614337
Mismatch Repair Cancer Syndrome 1
Non-Hodgkin lymphoma, Basal cell carcinoma, Adenocarcinoma of the colon, Medulloblastoma, Neurobl... OMIM:276300
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Familial Adenomatous Polyposis
Colorectal polyposis, Adenomatous colonic polyposis, Neoplasm of the adrenal gland, Fibroma, Neop... ORPHA:733
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Abnormality of the ribs, Short neck, Eunuch... ORPHA:2234
Juvenile Polyposis Syndrome
Rectal polyposis, Hamartomatous polyposis, Neoplasm of the gastrointestinal tract, Hemangioblasto... ORPHA:2929
Diarrhea 2, With Microvillus Atrophy
Villous atrophy, Abnormal intestine morphology OMIM:251850
Mosaic Trisomy 14
Narrow chest, Ectopic anus, Failure to thrive, Cleft palate, Abnormality of the ribs, High palate... ORPHA:1703
Colonic Atresia
Colonic atresia OMIM:303650
Oligodontia-Colorectal Cancer Syndrome
Fundic gland polyposis, Adenomatous colonic polyposis, Breast carcinoma, Colon cancer OMIM:608615
Gastric Volvulus, Intrathoracic
Hiatus hernia, Volvulus OMIM:137210
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Malabsorption, Prominent floating ribs OMIM:152800
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Basal cell carcinoma, Ovarian neoplasm, Pilomatrixoma, Pleuropulmonary... ORPHA:276399
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Fat malabsorption, Small bowel diverticula, Jejunoileal ulceration OMIM:221400
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of... ORPHA:2869
Diarrhea 9
Villous atrophy OMIM:618168
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends ORPHA:168555
Cowden Syndrome 6
Scoliosis, Subcutaneous lipoma, Kyphosis, Pectus excavatum, Meningioma, Thyroid adenoma, Furrowed... OMIM:615109
Cowden Syndrome 5
Scoliosis, Subcutaneous lipoma, Kyphosis, Pectus excavatum, Meningioma, Thyroid adenoma, Furrowed... OMIM:615108
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Gastrointestinal Stromal Tumor
Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Gastrointestinal hemorrhag... ORPHA:44890
Dextrocardia With Unusual Facies And Microphthalmia
Vertebral fusion, Supernumerary ribs, Vertebral segmentation defect, Cleft palate OMIM:221950
Diaphanospondylodysostosis
Short thorax, Enlarged thorax, Absent or minimally ossified vertebral bodies, Abnormal vertebral ... ORPHA:66637
Benign Schwannoma
Abnormal esophagus morphology, Scleral schwannoma, Abnormal parotid gland morphology, Intestinal ... ORPHA:252164
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Increased mitochondrial number OMIM:619063
Tylosis With Esophageal Cancer
Esophageal carcinoma, Neoplasm OMIM:148500
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hemangioma, Lactose intolerance, Intestinal polyp ORPHA:457485
Osteogenesis Imperfecta, Type Ix
Scoliosis, Platyspondyly, Pectus carinatum, Kyphosis, Pectus excavatum, Beaded ribs OMIM:259440
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Sprengel anomaly, Hemivertebrae, Abnormality of... ORPHA:2180
Becker Nevus Syndrome
Scoliosis, Hamartoma, Pectus carinatum, Kyphosis, Pectus excavatum, Rib fusion, Spina bifida occu... ORPHA:64755
Cowden Syndrome 1
Scoliosis, Subcutaneous lipoma, Carcinoma, Kyphosis, Pectus excavatum, Meningioma, Thyroid adenom... OMIM:158350
Peutz-Jeghers Syndrome
Precocious puberty with Sertoli cell tumor, Intestinal bleeding, Intussusception, Gastrointestina... OMIM:175200
Septopreoptic Holoprosencephaly
Abnormality of the ribs, Dysphagia, Anteriorly placed anus, Abnormal vertebral morphology ORPHA:280195
Bile Acid Malabsorption, Primary, 1
Fat malabsorption, Steatorrhea OMIM:613291
Aicardi Syndrome
Scoliosis, Hiatus hernia, Bifid ribs, Supernumerary ribs, Gastroesophageal reflux, Rib fusion, Mu... ORPHA:50
Diverticulosis, Small-Intestinal
Jejunoileal diverticula, Duodenal diverticula, Ulcerative colitis, Jejunal diverticula OMIM:223320
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum, Abnormality of the ribs OMIM:300864
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Villous atrophy, Aganglionic megacolon, Steatorrhea, Volvulus, Abno... ORPHA:95427
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Abnormal clavicle morphology, Kyphosis, Pectus excavatum, Abnormality of the ribs,... ORPHA:2522
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormality of the ribs, Pectus excavatum, Hypoplastic distal segments of scapulae, Cleft palate OMIM:602196
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Bell-shaped thorax, Horizontal ribs, Thoracic dysplasia, Obe... OMIM:615633
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Neoplasm of head and neck, Papillary renal cell carcinoma, Breast carcinoma, Papillary thyroid ca... ORPHA:97290
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Glossitis, Hematochezia, Gastrointestinal carcinoma, Protein-losing enteropathy, Xerostomia, Hama... OMIM:175500
Becker Nevus Syndrome
Scoliosis, Pectus excavatum, Cervical ribs, Hemivertebrae OMIM:604919
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormality of the ribs, Short neck, Vertebral segmentation defect ORPHA:2578
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Patent ductus arteriosus, Intestinal malrotation, Intestinal pseudo-obstruction, Congenital short... OMIM:300048
Bannayan-Riley-Ruvalcaba Syndrome
Scoliosis, Narrow palate, Pectus excavatum, Meningioma, Neoplasm of the breast, Lymphoma, Neoplas... ORPHA:109
Alpha-Heavy Chain Disease
Abnormality of the small intestine, Malabsorption ORPHA:100025
Basal Cell Nevus Syndrome
Scoliosis, Abnormal sternum morphology, Hemivertebrae, Hamartomatous stomach polyps, Ovarian carc... OMIM:109400
Cap Polyposis
Colorectal polyposis, Chronic atrophic gastritis, Hematochezia ORPHA:160148
Axial Mesodermal Dysplasia Spectrum
Scoliosis, Abnormality of the ribs, Morphological abnormality of the gastrointestinal tract, Abno... ORPHA:1834
Mccune-Albright Syndrome
Intestinal polyposis, Pituitary adenoma OMIM:174800
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy OMIM:613217
Poland Syndrome
Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae OMIM:173800
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Sprengel anomaly, Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and... OMIM:118100
Cat-Eye Syndrome
Abnormality of the ribs, Anal atresia ORPHA:195
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Platyspondyly, Narrow chest, Abnormality of the ribs, Short neck ORPHA:93267
Prune Belly Syndrome
Scoliosis, Pectus excavatum, Intestinal malrotation, Anal atresia, Volvulus, Abnormality of the r... ORPHA:2970
Osteogenesis Imperfecta, Type Xvi
Beaded ribs, Small for gestational age, Vertebral compression fracture OMIM:616229
Vascular Hyalinosis
Protein-losing enteropathy, Malabsorption, Hematochezia OMIM:277175
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Short thorax, Abnormal form of the vertebral bodies, Kyphosis, Rib segmentation abnorm... ORPHA:2311
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Narrow chest, Ovoid vertebral bodies, Hypoplastic sc... OMIM:269250
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Platyspondyly, Hyperlordosis, Anterior rib cupping, Pectus carinatum, Cleft palate, C1... OMIM:184250
Cowden Syndrome
Scoliosis, Adenoma sebaceum, Neoplasm, Colorectal polyposis, Breast carcinoma, Conjunctival hamar... ORPHA:201
Familial Melanoma
Neoplasm of the stomach, Neoplasm of the pancreas, Neoplasm of the breast, Melanoma ORPHA:618
Congenital Disorder Of Glycosylation, Type Iig
Scoliosis, Failure to thrive in infancy, Cleft palate, Abnormality of the ribs, High palate, Shor... OMIM:611209
Craniodiaphyseal Dysplasia
Abnormality of the ribs ORPHA:1513
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Supernumerary vertebrae, Rib fusion, Short ribs, Hemivertebrae, Vertebral fusion, Thin... OMIM:271520
Juberg-Hayward Syndrome
Scoliosis, Abnormality of the ribs, Anteriorly placed anus, Abnormal vertebral morphology ORPHA:2319
Osteogenesis Imperfecta, Type Xv
Scoliosis, Platyspondyly, Thin ribs OMIM:615220
Femoral-Facial Syndrome
Scoliosis, Sprengel anomaly, Rib fusion, Cleft palate, Abnormality of the ribs, Vertebral segment... ORPHA:1988
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the tongue, Hemivertebrae, Abnormali... ORPHA:2759
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Narrow chest, Severe platyspondyly, Short ribs, Thin ribs, Short neck OMIM:151210
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Platyspondyly, Irregular vertebral endplates, Thin ribs, Short neck, Obesity OMIM:618395
Juvenile Polyposis Of Infancy
Hemangioma, Hamartomatous polyposis, Intestinal bleeding, Subcutaneous lipoma, Gastrointestinal h... ORPHA:79076
Microcolon
Microcolon OMIM:251400
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Narrow chest, Wide-cupped costochondral junctions, Short ribs, Small abnormally fo... OMIM:187601
Atresia Of Small Intestine
Intestinal hypoplasia, Intestinal malrotation, Jejunal atresia ORPHA:1201
Fibrochondrogenesis
Broad ribs, Narrow chest, Abnormal form of the vertebral bodies, Hypoplastic scapulae, Bell-shape... ORPHA:2021
Jeune Syndrome
Abnormal clavicle morphology, Short thorax, Narrow chest, Abnormal sternum morphology, Abnormalit... ORPHA:474
Diastrophic Dwarfism
Scoliosis, Abnormal clavicle morphology, Hypoplastic cervical vertebrae, Abnormal form of the ver... ORPHA:628
Achondrogenesis Type 1B
Abnormality of the ribs, Short thorax, Short neck, Narrow chest ORPHA:93298
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Cupped ribs, Thoracic hypoplasia ORPHA:168549
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormality of the ribs, Abnormally ossified vertebrae, Intestinal malrotation ORPHA:3035
Mosaic Variegated Aneuploidy Syndrome
Myelodysplasia, Neoplasm, Vaginal neoplasm, Duodenal atresia, Nephroblastoma, Stomach cancer, Rha... ORPHA:1052
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Platyspondyly, Beaking of vertebral bodies, Irregular vertebral endplates, Lumbar hype... OMIM:609616
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the ribs, Sprengel anomaly, Abnormality of the vertebral column, Cleft palate OMIM:601076
Campomelia, Cumming Type
Myelodysplasia, Abnormal thorax morphology, Abnormally ossified vertebrae, Cleft palate, Abnormal... ORPHA:1318
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Thoracic hypoplasia, Ovoid vertebral bodies, Lumbar hyperlordosis, Posterior rib c... OMIM:608728
Neuroblastoma, Susceptibility To, 2
Ganglioneuroblastoma, Aganglionic megacolon, Ganglioneuroma, Neuroblastoma OMIM:613013
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Hematochezia, Rectal prolapse, Duodenal adenocarcinoma,... OMIM:174900
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Thoracolumbar scoliosis, Sprengel anomaly, Anal atresia, Cervical ribs OMIM:601389
Three M Syndrome 2
Hyperlordosis, Short thorax, Scapular winging, Pectus carinatum, Lumbar hyperlordosis, Thin ribs,... OMIM:612921
Cooper-Jabs Syndrome
Scoliosis, Abnormality of the ribs, Anteriorly placed anus, Missing ribs ORPHA:1488
Gastrointestinal Stromal Tumor
Dysphagia, Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibromas OMIM:606764
Mesomelic Dysplasia, Kantaputra Type
Abnormality of the ribs, Vertebral segmentation defect ORPHA:1836
Meconium Ileus
Meconium ileus, Microcolon OMIM:614665
Lethal Congenital Contracture Syndrome Type 1
Abnormality of the ribs, Short neck, Abnormal form of the vertebral bodies ORPHA:1486
Immunodeficiency 31C
Villous atrophy, Abnormal intestine morphology OMIM:614162
Achondrogenesis, Type Ii
Horizontal ribs, Absent vertebral body mineralization, Short ribs, Cleft palate, Barrel-shaped chest OMIM:200610
Dyggve-Melchior-Clausen Disease
Atlantoaxial instability, Platyspondyly, Short thorax, Abnormality of the vertebral column, Broad... ORPHA:239
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Scoliosis, Narrow chest, Rib fusion, Hemivertebrae, Persistent cloaca, Vertebral fusion, Anal atr... ORPHA:94095
Pten Hamartoma Tumor Syndrome
Hemangioma, Ganglioneuroma, Colon cancer, Endometrial carcinoma, Neoplasm, Renal cell carcinoma, ... ORPHA:306498
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Scoliosis, Broad ribs, Biconcave vertebral bodies, Short ribs, Short clavicles, Short neck OMIM:610319
Renpenning Syndrome
Pectus excavatum, Sprengel anomaly, Anal atresia, Cleft palate, Abnormality of the ribs, High, na... ORPHA:3242
Trigonocephaly 1
Meckel diverticulum OMIM:190440
White Forelock With Malformations
Abnormality of the ribs, Sprengel anomaly, Spina bifida occulta ORPHA:2475
Intussusception
Intussusception OMIM:147710
Bannayan-Riley-Ruvalcaba syndrome
Scoliosis, Hemangioma, Intussusception, Hematochezia, Pectus excavatum, Meningioma, Multiple lipo... OMIM:153480
Cartilage-Hair Hypoplasia
Scoliosis, Aganglionic megacolon, Esophageal atresia, Lymphoma, Lumbar hyperlordosis, Narrow vert... OMIM:250250
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Gastrointestinal hemorrhage, Dysphagia, Paraganglioma, Intestinal ... ORPHA:97286
Familial Colorectal Cancer Type X
Basal cell carcinoma, Gastrointestinal hemorrhage, Benign neoplasm of the central nervous system,... ORPHA:440437
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Intestinal bleeding, Osteoma, Desmoid tumors, Adenomatous colonic polyposis, Duodenal polyposis, ... ORPHA:261584
Eosinophilic Gastroenteritis
Hematochezia, Dysphagia, Abnormality of the gastrointestinal tract, Steatorrhea, Protein-losing e... ORPHA:2070
Annular Pancreas
Duodenal stenosis, High intestinal obstruction ORPHA:675
Pancreas, Annular
Duodenal stenosis, High intestinal obstruction OMIM:167750
Medulloblastoma
Medulloblastoma, Neuroblastoma, Back pain, Spinal cord tumor, Adenomatous colonic polyposis, Neop... ORPHA:616
Mucopolysaccharidosis Type 6
Macroglossia, Broad ribs, Ovoid vertebral bodies, Kyphosis, Failure to thrive, Short neck ORPHA:583
Acro-Renal-Mandibular Syndrome
Scoliosis, Abnormal clavicle morphology, Pectus carinatum, Kyphosis, Sprengel anomaly, Aplasia/Hy... ORPHA:958
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the ribs, Abnormal clavicle morphology ORPHA:276422
Adenocarcinoma Of The Anal Canal
Intestinal bleeding, Anal stenosis, Neoplasm of the rectum, Neoplasm of the liver, Rectal prolaps... ORPHA:424016
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormality of the ribs, Platyspondyly, Pectus carinatum ORPHA:93351
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Hypothalamic hamartoma, Esophageal atresia, Rib fusion, Hemivertebrae, Vert... OMIM:206900
Nestor-Guillermo Progeria Syndrome
Scoliosis, Abnormality of the ribs, Progressive clavicular acroosteolysis, Failure to thrive OMIM:614008
Achondrogenesis Type 1A
Multiple rib fractures, Short neck, Short thorax, Narrow chest ORPHA:93299
Achondrogenesis, Type Ia
Unossified vertebral bodies, Short neck, Hypoplastic scapulae, Beaded ribs, Short ribs, Broad cla... OMIM:200600
Mucopolysaccharidosis Type 4
Scoliosis, Platyspondyly, Hyperlordosis, Short thorax, Pectus carinatum, Kyphosis, Spinal canal s... ORPHA:582
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Beaded ribs, Small for gestational age OMIM:166210
Grant Syndrome
Abnormality of the ribs, Sprengel anomaly, Abnormality of the glenoid fossa, Narrow chest ORPHA:2097
Hereditary Hemorrhagic Telangiectasia
Gastrointestinal hemorrhage, Cavernous hemangioma, Esophageal varix, Intestinal polyposis, Viscer... ORPHA:774
Osteogenesis Imperfecta, Type X
Scoliosis, Platyspondyly, Broad ribs, Narrow chest, Thin ribs, Pyloric stenosis, Vertebral compre... OMIM:613848
Mungan Syndrome
Megaduodenum, Hypoperistalsis, Barrett esophagus, Intestinal pseudo-obstruction OMIM:611376
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis, Patent ductus arteriosus ORPHA:2547
Congenital Bile Acid Synthesis Defect Type 4
Fat malabsorption ORPHA:79095
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Protein-losing enteropathy OMIM:602579
Congenital Disorder Of Glycosylation, Type Ih
Patent ductus arteriosus, Protein-losing enteropathy OMIM:608104
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Abnormality of the ribs, Tracheoesophageal fistula, Pectus carinatum ORPHA:3068
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Ovoid vertebral bodies, Severe platyspondyly, Cupped ribs OMIM:608940
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Decreased body weight, Cleft palate OMIM:618265
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse OMIM:176780
Autoinflammatory Syndrome, Familial, Behcet-Like
Ileal ulcer, Colitis OMIM:616744
Shwachman-Diamond Syndrome 1
Anterior rib cupping, Myelodysplasia, Narrow chest, Ovoid vertebral bodies, Steatorrhea, Acute my... OMIM:260400
Holt-Oram Syndrome
Scoliosis, Abnormal clavicle morphology, Kyphosis, Sprengel anomaly, Pectus excavatum, Down-slopi... ORPHA:392
Hypophosphatasia
Abnormality of the ribs, Narrow chest, Failure to thrive in infancy ORPHA:436
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Anterior rib cupping, Platyspondyly, Prominent sternum, Thoracic kyphosis, Thin ribs, High palate... OMIM:300232
Cerebrofaciothoracic Dysplasia
Scoliosis, Narrow chest, Sprengel anomaly, Rib fusion, Hemivertebrae, Cleft palate, Short neck, V... ORPHA:1394
Pancreatic Colipase Deficiency
Fat malabsorption, Steatorrhea ORPHA:309108
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Platyspondyly, Coronal cleft vertebrae, Narrow chest, Short ribs, Cleft pal... ORPHA:2347
Kbg Syndrome
Thoracic kyphosis, Rib fusion, Vertebral fusion, Cervical ribs, Vertebral arch anomaly OMIM:148050
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hamartomatous polyposis, Juvenile gastrointestinal polyposis, Gastrointestinal carcinoma, Hematoc... OMIM:175050
Disorder Of Bile Acid Synthesis
Fat malabsorption ORPHA:79168
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Scoliosis, Abnormality of the vertebral column, Abnormal vertebral morphology, Unilateral chest h... OMIM:308205
Infantile-Onset X-Linked Spinal Muscular Atrophy
High palate, Cupped ribs, Short ribs, Kyphoscoliosis ORPHA:1145
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Scoliosis, Lateral clavicle hook, Thoracic hypoplasia, Hamartoma of tongue, Intestinal malrotatio... OMIM:613091
Fibrochondrogenesis 1
Anterior rib cupping, Platyspondyly, Posterior vertebral hypoplasia, Thoracic hypoplasia, Hypopla... OMIM:228520
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Hematochezia ORPHA:103910
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption OMIM:600955
3M Syndrome
Scoliosis, Hyperlordosis, Increased vertebral height, Short thorax, Scapular winging, Enlarged th... ORPHA:2616
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Platyspondyly, 11 pairs of ribs OMIM:300863
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Thoracic hypoplasia, Beaded ribs, Short ribs, Small for gestational age, Multiple ... OMIM:616897
Mucopolysaccharidosis, Type Iva
Scoliosis, Platyspondyly, Hyperlordosis, Prominent sternum, Ovoid vertebral bodies, Kyphosis, Fla... OMIM:253000
Monosomy 9Q22.3
Basal cell carcinoma, Medulloblastoma, Cardiac fibroma, Short neck, Abnormality of the vertebral ... ORPHA:77301
Brachytelephalangic Chondrodysplasia Punctata
Atlantoaxial instability, Vertebral hypoplasia, Cervical vertebral dysplasia, Cervical spinal can... ORPHA:79345
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Small bowel diverticula, Colonic diverticula OMIM:223330
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Abnormally ossified vertebrae, Bifid tongue, Cleft palate, Abno... ORPHA:2167
Mucopolysaccharidosis, Type Ivb
Scoliosis, Platyspondyly, Hyperlordosis, Prominent sternum, Ovoid vertebral bodies, Kyphosis, Fla... OMIM:253010
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormality of the ribs, Kyphosis, Short neck, Pectus carinatum ORPHA:3082
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormality of the ribs ORPHA:1506
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Steatorrhea, Anal atresia, Abnormal... ORPHA:92050
Hyperparathyroidism, Transient Neonatal
Thin ribs, Short ribs, Narrow chest OMIM:618188
Colonic Atresia
Peptic ulcer, Duodenal stenosis, Colonic atresia ORPHA:1198
Acrocapitofemoral Dysplasia
Scoliosis, Narrow chest, Pectus carinatum, Ovoid vertebral bodies, Pectus excavatum, Short ribs, ... OMIM:607778
10Q22.3Q23.3 Microdeletion Syndrome
Intestinal polyposis ORPHA:276413
Vacterl/Vater Association
Abnormality of the ribs, Cavernous hemangioma, Anal atresia, Abnormality of the intervertebral di... ORPHA:887
Dysosteosclerosis
Platyspondyly, Broad ribs, Narrow chest, Short sternum, Irregular vertebral endplates, Short ribs... OMIM:224300
Martinez-Frias Syndrome
Intestinal hypoplasia, Intestinal malrotation, Jejunal atresia, Duodenal atresia, Tracheoesophage... OMIM:601346
Dyggve-Melchior-Clausen Disease
Scoliosis, Platyspondyly, Prominent sternum, Shield chest, Beaking of vertebral bodies, Thoracic ... OMIM:223800
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Pectus excavatum, Six lumbar vertebrae, Supernumerary ribs, Unilateral cleft pa... OMIM:619122
Craniofaciofrontodigital Syndrome
Abnormality of the ribs, Abnormal shoulder morphology, Hypoplastic vertebral bodies, Narrow chest ORPHA:363705
Trisomy 13
Scoliosis, Narrow chest, Kyphosis, Cleft palate, Abnormality of the ribs, High, narrow palate, Ca... ORPHA:3378
Cole-Carpenter Syndrome 2
Platyspondyly, Kyphosis, Pectus excavatum, Thin ribs, High palate OMIM:616294
Thoraco-Abdominal Enteric Duplication
Duodenal stenosis, Intestinal malrotation ORPHA:1759
Campomelic Dysplasia
Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Thoracic hypoplasia, Hypoplas... OMIM:114290
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs OMIM:122860
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the ribs, Cleft palate ORPHA:2145
Melnick-Needles Syndrome
Scoliosis, Short thorax, Anisospondyly, Narrow chest, Short clavicles, Abnormality of the ribs ORPHA:2484
Poland Syndrome
Scoliosis, Pectus carinatum, Abnormal sternum morphology, Kyphosis, Retinal hamartoma, Sprengel a... ORPHA:2911
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Thin ribs, Cleft palate OMIM:312150
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Morphological abnormality of the gastrointestinal tract, Patent ductus arter... ORPHA:2847
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Lateral clavicle hook, Narrow chest, Pectus carinatum, Hamartoma of tongue, Intest... OMIM:263520
Kniest-Like Dysplasia, Lethal
Platyspondyly, Broad ribs, Coronal cleft vertebrae, Narrow chest, Short ribs, Cleft palate, Short... OMIM:245190
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperistalsis, Neoplasm of t... ORPHA:2241
Microvillus Inclusion Disease
Villous atrophy, Abnormality of small intestinal villus morphology ORPHA:2290
Familial Pancreatic Carcinoma
Functional intestinal obstruction, Back pain, Neoplasm of the liver, Intestinal pseudo-obstructio... ORPHA:1333
Refractory Celiac Disease
Protein-losing enteropathy, Villous atrophy, Malabsorption, Jejunitis ORPHA:398063
Paragangliomas 4
Gastrointestinal stroma tumor, Extraadrenal pheochromocytoma, Neuroblastoma, Adrenal pheochromocy... OMIM:115310
Microcephalic Primordial Dwarfism, Toriello Type
Abnormality of the ribs ORPHA:2643
Aicardi Syndrome
Scoliosis, Hiatus hernia, Hemangioma, Bifid ribs, Carcinoma, Metastatic angiosarcoma, Teratoma, R... OMIM:304050
Cole-Carpenter Syndrome
Scoliosis, Abnormality of the ribs, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2050
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Thin ribs, Cleft palate OMIM:253290
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Tetraamelia-Multiple Malformations Syndrome
Abnormality of the ribs, Abnormally ossified vertebrae, Anal atresia, Missing ribs ORPHA:3301
Alagille Syndrome
Abnormal form of the vertebral bodies, Failure to thrive, Spina bifida occulta, Abnormality of th... ORPHA:52
Proximal 16P11.2 Microdeletion Syndrome
Scoliosis, Abnormal vertebral morphology, Rib fusion, Failure to thrive, Cleft palate, Pyloric st... ORPHA:261197
Thoracic Outlet Syndrome
Abnormality of the ribs ORPHA:97330
Cartilage-Hair Hypoplasia
Scoliosis, Hyperlordosis, Short thorax, Biconvex vertebral bodies, Narrow chest, Abnormal form of... ORPHA:175
Phaver Syndrome
Abnormality of the ribs, Butterfly vertebrae, Abnormal form of the vertebral bodies ORPHA:2876
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Dysphagia, Gastroesophageal reflux, Abnormal... ORPHA:73230
Mucopolysaccharidosis, Type Iiia
Thickened ribs, Ovoid thoracolumbar vertebrae OMIM:252900
Radiation Proctitis
Rectal fistula, Hematochezia, Abnormal rectum morphology, Abnormality of gastrointestinal vascula... ORPHA:70475
Congenital Alveolar Capillary Dysplasia
Patent ductus arteriosus, Intestinal malrotation, Aganglionic megacolon, Anal atresia, Volvulus, ... ORPHA:210122
Duodenal Atresia
Duodenal atresia OMIM:223400
Mucopolysaccharidosis, Type Vi
Macroglossia, Prominent sternum, Broad ribs, Ovoid vertebral bodies, Anterior wedging of L2, Lumb... OMIM:253200
Dextrocardia
Meckel diverticulum, Abnormality of the ribs, Intestinal malrotation, Neuroblastoma ORPHA:1666
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia, Large for gestational age, Small for gestational age ORPHA:254534
Osteogenesis Imperfecta, Type Iii
Scoliosis, Kyphosis, Thin ribs, Biconcave vertebral bodies OMIM:259420
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Flaring of rib cage, Fused cervical vertebrae, Broad ribs, Failure to thrive in infancy OMIM:612852
Cardiospondylocarpofacial Syndrome
Scoliosis, Fused cervical vertebrae, Rib fusion, Failure to thrive OMIM:157800
Lethal Congenital Contracture Syndrome 10
Narrow palate, Broad ribs, Narrow chest, High palate, Short neck, Thoracic scoliosis OMIM:617022
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Dysphagia, Ovoid thoracolumbar vertebrae, Kyphoscoliosis OMIM:252930
Scleroderma
Abnormal stomach morphology, Intestinal bleeding, Abnormality of the gastrointestinal tract, Abno... ORPHA:801
Gm1-Gangliosidosis, Type I
Scoliosis, Thickened ribs, Beaking of vertebral bodies, Kyphosis, Short neck, Hypoplastic vertebr... OMIM:230500
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Scoliosis, Platyspondyly, Hyperlordosis, Abnormality of the ribs ORPHA:85167
Harrod Syndrome
Malrotation of small bowel, Aganglionic megacolon, High palate, High, narrow palate, Pyloric sten... OMIM:601095
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Meckel diverticulum, Dysphagia ORPHA:163961
Visceral Myopathy 1
Megaduodenum, Dysphagia, Aganglionic megacolon, Intestinal pseudo-obstruction, Microcolon OMIM:155310
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of the ribs ORPHA:2772
Netherton Syndrome
Villous atrophy, Intestinal atresia, Abnormal intestine morphology OMIM:256500
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Vertebral compression fracture, Biconcave vertebral bodies OMIM:617952
Microcephaly-Micromelia Syndrome
Abnormality of the ribs, Short neck, Narrow chest, Cleft palate OMIM:251230
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Thoracic hypoplasia, Horizontal ribs, Short ribs OMIM:617895
Aspergillosis
Abnormality of the ribs, Hematological neoplasm, Abnormal esophagus morphology, Abnormality of th... ORPHA:1163
Pontine Tegmental Cap Dysplasia
Scoliosis, Rib fusion, Failure to thrive, Hemivertebrae OMIM:614688
Trichohepatoenteric Syndrome 2
Villous atrophy, Colitis OMIM:614602
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Cleidocranial Dysplasia
Scoliosis, Abnormality of the ribs, Narrow chest, Hypoplastic scapulae, Down-sloping shoulders, G... ORPHA:1452
Occipital Horn Syndrome
Hiatus hernia, Platyspondyly, Broad ribs, Narrow chest, Pectus carinatum, Kyphosis, Pectus excava... OMIM:304150
Systemic Sclerosis
Abnormal stomach morphology, Intestinal bleeding, Abnormality of the gastrointestinal tract, Dysp... ORPHA:90291
Cerebrocostomandibular Syndrome
Scoliosis, Anal stenosis, Thoracic hypoplasia, Gastroesophageal reflux, Bell-shaped thorax, Anoma... OMIM:117650
Mosaic Trisomy 8
Scoliosis, Narrow chest, Cleft palate, Abnormality of the ribs, High palate, Short neck, Vertebra... ORPHA:96061
Cenani-Lenz Syndrome
Scoliosis, Abnormality of the ribs, High, narrow palate, Abnormal form of the vertebral bodies ORPHA:3258
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae OMIM:252920
Mucopolysaccharidosis, Type Iiid
Thickened ribs, Dysphagia, Ovoid thoracolumbar vertebrae, Short neck OMIM:252940
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Enterocolitis OMIM:616050
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Scoliosis, Short ribs, Lumbar hyperlordosis, Irregular chondrocostal junctions, Flat glenoid foss... OMIM:250420
Cholestasis, Progressive Familial Intrahepatic, 1
Fat malabsorption OMIM:211600
Craniometadiaphyseal Dysplasia, Wormian Bone Type
High palate, Broad ribs, Vertebral arch anomaly ORPHA:85184
Frontometaphyseal Dysplasia 1
Scoliosis, Anteriorly placed odontoid process, Scapular winging, Coat hanger sign of ribs, High p... OMIM:305620
Mitchell-Riley Syndrome
Intestinal malrotation, Jejunal atresia, Anteriorly placed anus, Duodenal atresia, Malabsorption OMIM:615710
Hypertrichotic Osteochondrodysplasia, Cantu Type
Platyspondyly, Broad ribs, Narrow chest, Ovoid vertebral bodies, Cuboid-shaped vertebral bodies, ... ORPHA:1517
Trisomy 1Q
Abnormality of the ribs, Short thorax, Anal atresia, Cleft palate ORPHA:261344
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly ORPHA:163966
Familial Osteodysplasia, Anderson Type
Scoliosis, Abnormal form of the vertebral bodies, Kyphosis, Abnormality of the ribs, Aplastic cla... ORPHA:2769
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, High palate, Villous atrophy OMIM:601110
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormality of the ribs, Abnormal sternum morphology, Broad ribs, Short ribs ORPHA:2519
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Thin ribs, High palate ORPHA:456328
Kagami-Ogata Syndrome
Short neck, Thoracic hypoplasia, Bell-shaped thorax, Coat hanger sign of ribs, Kyphoscoliosis, La... ORPHA:254519
Beckwith-Wiedemann Syndrome
Facial hemangioma, Macroglossia, Neuroblastoma, Gonadoblastoma, Leiomyosarcoma, Neoplasm, Cleft p... ORPHA:116
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Lateral clavicle hook, Narrow chest, Hamartoma of tongue, Horizontal ribs, Short ribs, Long thora... OMIM:617925
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Decreased body weight OMIM:614833
Meier-Gorlin Syndrome 1
Absent glenoid fossa, Lateral clavicle hook, Absent sternal ossification, Pectus carinatum, Short... OMIM:224690
Radio-Renal Syndrome
Abnormality of the ribs, High, narrow palate, Short neck, Abnormal form of the vertebral bodies ORPHA:3015
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormality of the ribs, Vertebral segmentation defect ORPHA:1120
Bile Acid Synthesis Defect, Congenital, 4
Fat malabsorption OMIM:214950
Schwartz-Jampel Syndrome
Scoliosis, Hyperlordosis, Platyspondyly, Shoulder flexion contracture, Pectus carinatum, Kyphosis... ORPHA:800
Multiple Pterygium-Malignant Hyperthermia Syndrome
Scoliosis, Kyphosis, Pectus excavatum, Cleft palate, Abnormality of the ribs, Capillary hemangioma ORPHA:2215
Osteogenesis Imperfecta, Type Viii
Scoliosis, Platyspondyly, Kyphosis, Thin ribs, Barrel-shaped chest, Vertebral compression fracture OMIM:610915
X-Linked Non-Syndromic Intellectual Disability
Meckel diverticulum, Pyloric stenosis ORPHA:777
Fibrous Dysplasia Of Bone
Scoliosis, Abnormal clavicle morphology, Neoplasm of the breast, Cutaneous myxoma, Abnormal lumba... ORPHA:249
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
Fg Syndrome Type 1
Abnormal sternum morphology, Gastroesophageal reflux, Sacral dimple, Malrotation of colon, Anal a... ORPHA:93932
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatocellular carcinoma, Fat malabsorption OMIM:601847
Autosomal Recessive Multiple Pterygium Syndrome
Scoliosis, Abnormal sternum morphology, Pectus excavatum, Rib fusion, Cleft palate, Failure to th... ORPHA:2990
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Malabsorption, Colitis OMIM:209920
Mucolipidosis Iii Alpha/Beta
Scoliosis, Broad ribs, Short ribs OMIM:252600
Sclerosteosis 1
Broad clavicles, Sclerotic vertebral endplates, Broad ribs, Sclerotic scapulae OMIM:269500
Autosomal Dominant Centronuclear Myopathy
Thin ribs, Pyloric stenosis, Cavernous hemangioma ORPHA:169189
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Lumbar hemivertebrae, Pectus excavatum, Thin ribs, High palate, Eunuchoid habitus ORPHA:2463
Craniofaciofrontodigital Syndrome
Pectus excavatum, Short neck, Hypoplastic vertebral bodies, Broad ribs OMIM:114620
Lethal Congenital Contracture Syndrome 5
Thin ribs, Small for gestational age OMIM:615368
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Thin ribs, Asymmetry of the thorax OMIM:604922
Hallermann-Streiff Syndrome
Scoliosis, Hyperlordosis, Narrow palate, Pectus excavatum, Abnormal rib cage morphology, Decrease... OMIM:234100
Otopalatodigital Syndrome Type 2
Scoliosis, Narrow chest, Cleft palate, Glossoptosis, Failure to thrive, Abnormal vertebral segmen... ORPHA:90652
Oculocerebrocutaneous Syndrome
Abnormality of the ribs, Exostoses, Missing ribs ORPHA:1647
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Scoliosis, Narrow chest, Beaking of vertebral bodies, High palate, Rib fusion, Sacral dimple, Hem... OMIM:213980
Short-Rib Thoracic Dysplasia 12
Median cleft lip and palate, Short thorax, Narrow chest, Hypoplastic scapulae, Hamartoma of tongu... OMIM:269860
Acrorenal-Mandibular Syndrome
Narrow palate, Narrow chest, Hypoplastic scapulae, Hemivertebrae, Thin ribs, Abnormal sacral segm... OMIM:200980
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow chest, Horizontal ribs, Bell-shaped thorax, Short ribs, Anal atresia, Bifid tongue, Lobula... OMIM:616300
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal stomach morphology, Morphological abnormality of the gastrointestin... ORPHA:141127
Serkal Syndrome
Malrotation of small bowel ORPHA:139466
Cog1-Cdg
Irregularity of vertebral bodies, Posterior rib gap, Rib fusion, Failure to thrive, Kyphoscoliosi... ORPHA:263508
Hurler Syndrome
Scoliosis, Abnormal clavicle morphology, Macroglossia, Abnormal vertebral morphology, Spinal cana... ORPHA:93473
Spondylometaphyseal Dysplasia, Sedaghatian Type
Abnormality of the ribs, Platyspondyly, Abnormal scapula morphology, Narrow chest ORPHA:93317
Kagami-Ogata Syndrome
Thin ribs, Bell-shaped thorax, Long clavicles, Kyphoscoliosis OMIM:608149
Chylomicron Retention Disease
Fat malabsorption, Steatorrhea ORPHA:71
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Esophagitis, Dysphagia, Esophageal stricture, Colitis, Abnor... ORPHA:2908
Craniometadiaphyseal Dysplasia
Scoliosis, High palate, Broad ribs OMIM:269300
Autosomal Dominant Popliteal Pterygium Syndrome
Scoliosis, Abnormality of the ribs, Cleft palate ORPHA:1300
Multiple Pterygium Syndrome, Escobar Variant
Scoliosis, Anterior clefting of vertebral bodies, Kyphosis, Rib fusion, Exostosis of the external... OMIM:265000
Pyknoachondrogenesis
Short thorax, Poorly ossified vertebrae, Enlarged thorax, Horizontal ribs, Short ribs, Unossified... ORPHA:3003
Osteopathia Striata With Cranial Sclerosis
Scoliosis, Thoracolumbar kyphosis, Broad ribs, Anal stenosis, Pectus excavatum, Gastroesophageal ... OMIM:300373
Kyphomelic Dysplasia
Anterior rib cupping, Platyspondyly, Lateral clavicle hook, Thoracic hypoplasia, Cleft palate, Un... OMIM:211350
Bile Acid Synthesis Defect, Congenital, 1
Fat malabsorption, Steatorrhea OMIM:607765
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Microcolon, Patent ductus arteriosus, Ileal atresia OMIM:619351
Antley-Bixler Syndrome
Abnormality of the ribs, Narrow chest, Cleft palate ORPHA:83
Down Syndrome
Macroglossia, Aganglionic megacolon, Protruding tongue, Anal atresia, Duodenal stenosis OMIM:190685
Severe Congenital Nemaline Myopathy
Thin ribs, Dysphagia, Abnormal thorax morphology ORPHA:171430
Xylt1-Cdg
Truncal obesity, Broad ribs, Short clavicles, Cleft palate ORPHA:370930
Scedosporiosis
Abnormal jejunum morphology ORPHA:449280
Short Rib-Polydactyly Syndrome
Gastrointestinal atresia, Narrow chest, Thoracic hypoplasia, Hypoplastic scapulae, Intestinal mal... ORPHA:1505
Shprintzen-Goldberg Craniosynostosis Syndrome
Scoliosis, Lateral clavicle hook, C1-C2 vertebral abnormality, Narrow palate, Pectus carinatum, P... OMIM:182212
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, High palate, Cleft palate OMIM:235255
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Platyspondyly, Ovoid vertebral bodies, Flaring of rib cage, Irregular vertebral endplates, Decrea... OMIM:271640
Gracile Bone Dysplasia
Thin ribs, Ankyloglossia, Failure to thrive OMIM:602361
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Rectal prolapse, Narrow palate, Protein-losing enteropathy OMIM:235510
Carney Triad
Gastrointestinal stroma tumor, Adrenocortical adenoma, Gastrointestinal hemorrhage, Pheochromocyt... ORPHA:139411
Osteogenesis Imperfecta
Scoliosis, Narrow chest, Abnormal form of the vertebral bodies, Biconcave vertebral bodies, Thora... ORPHA:666
Carney Complex
Osteochondroma, Cardiac myxoma, Adrenocortical carcinoma, Parathyroid adenoma, Neoplasm of the pa... ORPHA:1359
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Macroglossia, Pectus excavatum, Rib fusion, Thoracic hemivertebrae... OMIM:268310
Kenny-Caffey Syndrome, Type 1
Thin ribs, Long clavicles, Thin clavicles OMIM:244460
Oculoskeletodental Syndrome
Macroglossia, Protein-losing enteropathy OMIM:618440
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Thin clavicles ORPHA:93324
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Ileus OMIM:304790
Wolf-Hirschhorn Syndrome
Scoliosis, Hemangioma, Abnormality of the vertebral column, Abnormal vertebral morphology, Abnorm... ORPHA:280
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Microcolon, Ileus ORPHA:163746
Weill-Marchesani Syndrome 1
Scoliosis, Narrow palate, Broad ribs, Lumbar hyperlordosis, Spinal canal stenosis OMIM:277600
Schinzel-Giedion Midface Retraction Syndrome
Facial hemangioma, Macroglossia, Sacrococcygeal teratoma, Broad ribs, Teratoma, Short sternum, Lo... OMIM:269150
Microcephaly, Short Stature, And Limb Abnormalities
Abnormality of the ribs OMIM:617604
Fanconi Anemia, Complementation Group D2
Tracheoesophageal fistula, Esophageal atresia, Patent ductus arteriosus, Prolonged G2 phase of ce... OMIM:227646
Simpson-Golabi-Behmel Syndrome
Scoliosis, Macroglossia, Neuroblastoma, Pectus excavatum, Neoplasm, Vertebral fusion, Nephroblast... ORPHA:373
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Villous atrophy, Chronic atrophic gastritis, Colitis OMIM:614700
Camptodactyly Syndrome, Guadalajara Type 3
Abnormality of the ribs, Numerous nevi, Short neck, Spina bifida occulta ORPHA:488434
Van Den Ende-Gupta Syndrome
Lateral clavicle hook, Pectus excavatum, Thin ribs, Glenoid fossa hypoplasia, Cleft palate, High ... OMIM:600920
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Hiatus hernia, Abnormal duodenum morphology, Intestinal malrotation, Cleft palate, High palate OMIM:601776
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Meckel diverticulum OMIM:602613
Fryns Syndrome
Meckel diverticulum, Broad ribs, Thoracic hypoplasia, Intestinal malrotation, Esophageal atresia,... OMIM:229850
Stuve-Wiedemann Syndrome
Scoliosis, Short neck, Dysphagia, Thin ribs, Smooth tongue OMIM:601559
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Large for gestational age, Celiac disease, Rib fusion, Sacral dimple ORPHA:544488
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... ORPHA:512
Myhre Syndrome
Platyspondyly, Abnormality of the ribs, Cleft palate, Bifid uvula, Submucous cleft hard palate ORPHA:2588
Baller-Gerold Syndrome
Scoliosis, Abnormal vertebral morphology, Perineal fistula, Rib fusion, Rectovaginal fistula, Ana... OMIM:218600
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Macroglossia, Prominent sternum, Thoracic hypoplasia, Pectus excavatum, Coat hanger sign of ribs ORPHA:254528
Schinzel-Giedion Syndrome
Scoliosis, Myeloid leukemia, Macroglossia, Sacrococcygeal teratoma, Short neck, Facial hemangioma... ORPHA:798
Mucopolysaccharidosis Type 3
Scoliosis, Abnormal clavicle morphology, Macroglossia, Abnormal form of the vertebral bodies, Dys... ORPHA:581
Restrictive Dermopathy
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Thin ribs, Microcolon, Increased an... ORPHA:1662
Storm Syndrome
Fat malabsorption OMIM:185069
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Anterior rib cupping, Macroglossia, Absent glenoid fossa, Short neck, Prominent sternu... ORPHA:96334
Renal Dysplasia-Limb Defects Syndrome
Short sternum, Short ribs, Thin ribs, High palate, Short neck OMIM:266910
Hereditary Acrokeratotic Poikiloderma
Oral leukoplakia, Ankyloglossia, Abnormality of the gastrointestinal tract, Xerostomia, Abnormali... ORPHA:2907
Trisomy 18
Narrow palate, Esophageal atresia, Anal atresia, Cleft palate, Abnormality of the ribs ORPHA:3380
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Protein-losing enteropathy ORPHA:1655
Heart Defects, Congenital, And Other Congenital Anomalies
Microcolon, Cervical ribs, Intestinal malrotation, Colon perforation OMIM:600001
Vater/Vacterl Association
Scoliosis, Abnormal vertebral morphology, Abnormal sternum morphology, Esophageal atresia, Anal a... OMIM:192350
Bloom Syndrome
Myelodysplasia, Recurrent gastroenteritis, Gastroesophageal reflux, Esophageal neoplasm, Neoplasm... ORPHA:125
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, Horizontal inferior border of scapula, Short ribs, 11 pairs of ribs,... OMIM:250220
Pallister-Hall Syndrome
Hypothalamic hamartoma, Rib fusion, Midline facial capillary hemangioma, Hemivertebrae, Microglos... OMIM:146510
Smith-Lemli-Opitz Syndrome
Scoliosis, Facial capillary hemangioma, Short neck, Abnormal form of the vertebral bodies, Kyphos... ORPHA:818
Alagille Syndrome 1
Hepatocellular carcinoma, Hemivertebrae, Failure to thrive, Abnormality of the ribs, Butterfly ve... OMIM:118450
Whim Syndrome
Abnormality of the small intestine, Parotitis ORPHA:51636
Robinow Syndrome
Scoliosis, Ankyloglossia, Rib fusion, Fused thoracic vertebrae, Hemivertebrae, Small for gestatio... ORPHA:97360
X-Linked Hypophosphatemia
Sacroiliac joint synovitis, Beaded ribs, Rachitic rosary, Vertebral hyperostosis, Enlargement of ... ORPHA:89936
Femoral-Facial Syndrome
Scoliosis, Sprengel anomaly, Gastroesophageal reflux, Dysplastic sacrum, Rib fusion, Hemivertebra... OMIM:134780
Ellis-Van Creveld Syndrome
Pectus carinatum, Horizontal ribs, Short ribs, Narrow chest OMIM:225500
Monosomy 9P
Scoliosis, Abnormality of the vertebral column, Cleft palate, Abnormality of the ribs, High palat... ORPHA:261112
17Q11 Microdeletion Syndrome
Scoliosis, Atypical neurofibromatosis, Plexiform neurofibroma, Beaking of vertebral bodies T12-L3... ORPHA:97685
Zttk Syndrome
Scoliosis, Kyphosis, Rib fusion, Hemivertebrae, Cervical ribs, Failure to thrive, Bifid uvula, Hi... OMIM:617140
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Scoliosis, Midfrontal capillary hemangioma, Abnormal vertebral morphology, Narrow chest, Hypoplas... ORPHA:95699
Myhre Syndrome
Platyspondyly, Broad ribs, Enlarged vertebral pedicles, Vertebral fusion, Small for gestational a... OMIM:139210
Autosomal Recessive Robinow Syndrome
Scoliosis, Ankyloglossia, Pectus carinatum, Kyphosis, Pectus excavatum, Rib fusion, Sacral dimple... ORPHA:1507
Meier-Gorlin Syndrome 7
Anal stenosis, Anal atresia, Cleft palate, High palate, Duodenal stenosis OMIM:617063
Osteogenesis Imperfecta, Type Vii
Scoliosis, Narrow chest, Pectus excavatum, Multiple rib fractures, Vertebral compression fracture OMIM:610682
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine OMIM:200995
Mosaic Trisomy 16
Meckel diverticulum, Abnormality of the gastrointestinal tract, Anteriorly placed anus, Patent du... ORPHA:1708
Common Variable Immunodeficiency
Anal atresia, Gastrointestinal stroma tumor, Lymphoma ORPHA:1572
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy OMIM:606367
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hamartoma, Narrow chest, Horizontal ribs, Short ribs, Short clavicles OMIM:617088
Ear-Patella-Short Stature Syndrome
Abnormality of the ribs, Failure to thrive, Cleft palate, Bifid uvula, High, narrow palate, Aplas... ORPHA:2554
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Long clavicles, Failure to thrive, Cleft palate, Pyloric stenosis, Fused cervical vert... ORPHA:83617
Syndromic Diarrhea
Villous atrophy, Patent ductus arteriosus, Colitis, Gastritis, Hepatoblastoma ORPHA:84064
Eiken Syndrome
Broad ribs, Decreased body weight OMIM:600002
Fetal Akinesia Deformation Sequence 1
Thoracic hypoplasia, Thin ribs, Small for gestational age, Cleft palate, High palate, High, narro... OMIM:208150
Tarp Syndrome
Cleft palate, Abnormal duodenum morphology, Glossoptosis, Tongue nodules ORPHA:2886
Combined Immunodeficiency-Enteropathy Spectrum
Gastrointestinal atresia, Intestinal malrotation, Jejunoileal ulceration, Rectal abscess, Intesti... ORPHA:436252
Fanconi Anemia
Meckel diverticulum, Azoospermia, Aplasia/Hypoplasia of the uvula, Patent ductus arteriosus, Agan... ORPHA:84
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Hematochezia OMIM:618183
Weill-Marchesani Syndrome 2
Scoliosis, Narrow palate, Broad ribs, Lumbar hyperlordosis, Spinal canal stenosis, High palate OMIM:608328
Lenz-Majewski Hyperostotic Dwarfism
Broad ribs, Broad clavicles, Microglossia, Failure to thrive, Anteriorly placed anus OMIM:151050
1P36 Deletion Syndrome
Scoliosis, Neuroblastoma, Dysphagia, Kyphosis, Gastroesophageal reflux, Rib fusion, Spinal canal ... ORPHA:1606
Ulbright-Hodes Syndrome
Short sternum, Short ribs, Thin ribs, Ovoid thoracolumbar vertebrae, Abnormality of the ribs, Hig... ORPHA:3404
Musculocontractural Ehlers-Danlos Syndrome
High palate, Malrotation of small bowel, Cleft palate ORPHA:2953
Wolf-Hirschhorn Syndrome
Scoliosis, Hemangioma, Malrotation of small bowel, Abnormal form of the vertebral bodies, Abnorma... OMIM:194190
Alpha-Mannosidosis, Infantile Form
Thickened ribs, Platyspondyly, Macroglossia, Pectus carinatum, Pectus excavatum, Short neck ORPHA:309282
Maternal Uniparental Disomy Of Chromosome 4
Fat malabsorption ORPHA:96180
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Meckel diverticulum, Patent ductus arteriosus, Esophageal atresia, Intestinal malrotation, Duoden... OMIM:265380
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Horizontal ribs, Short ribs, Thoracic dysplasia OMIM:208500
Oculocerebrorenal Syndrome Of Lowe
Scoliosis, Platyspondyly, Narrow palate, Benign neoplasm of the central nervous system, Kyphosis,... ORPHA:534
Matthew-Wood Syndrome
Duodenal stenosis ORPHA:2470
Charge Syndrome
Scoliosis, Anal stenosis, Dysphagia, Down-sloping shoulders, Esophageal atresia, Hemivertebrae, D... OMIM:214800
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Esophageal varix, Protein-losing enteropathy, Cholangiocarcinoma, Fa... ORPHA:731
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Prominent sternum, Narrow palate, Broad ribs, Barrel-shaped chest, Pectus carinatum, Hemivertebra... OMIM:276820
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle OMIM:600901
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle OMIM:227650
Fraser Syndrome 1
Abnormality of the anus, Abnormality of the small intestine, Cleft palate OMIM:219000
Cranioectodermal Dysplasia 2
Narrow chest, Pectus excavatum, Horizontal ribs, Short ribs, Cleft palate, High palate, Short neck OMIM:613610
Zygomycosis
Gastrointestinal hemorrhage, Hematemesis, Hematochezia, Ileitis, Unusual gastrointestinal infecti... ORPHA:73263
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle OMIM:227645
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Esophageal carcinoma, Villous atrophy, Enterocolitis, Abnormal intestine morphology ORPHA:391487
Charge Syndrome
Scoliosis, Abnormal soft palate morphology, Gastroesophageal reflux, Hemivertebrae, Cleft palate,... ORPHA:138
Trichohepatoenteric Syndrome 1
Bifid uvula, Villous atrophy OMIM:222470
Townes-Brocks Syndrome
Abnormal vertebral morphology, Rectovaginal fistula, Anal atresia, Abnormality of the ribs, Recto... ORPHA:857
Abetalipoproteinemia
Fat malabsorption, Steatorrhea ORPHA:14
Shwachman-Diamond Syndrome
Abnormality of the gastrointestinal tract, Fat malabsorption, Steatorrhea ORPHA:811
Parenteral Nutrition-Associated Cholestasis
Villous atrophy ORPHA:567983
Malakoplakia
Neoplasm of the rectum, Neoplasm of the colon, Prostate neoplasm ORPHA:556
Isolated Biliary Atresia
Fat malabsorption ORPHA:30391
Trisomy 8P
Bifid uvula, Malrotation of small bowel, Cleft palate ORPHA:264450
Mucopolysaccharidosis Type 2, Severe Form
Thickened ribs, Macroglossia, Spinal canal stenosis, Abnormal vertebral morphology ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Thickened ribs, Macroglossia, Spinal canal stenosis, Abnormal vertebral morphology ORPHA:217093
Dermatomyositis
Gastrointestinal stroma tumor, Weight loss, Lymphoma, Neoplasm, Breast carcinoma, Lung adenocarci... ORPHA:221
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Small bowel diverticula ORPHA:90349