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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
Colon cancer, Adenomatous colonic polyposis OMIM:608456
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Colon cancer, Adenomatous colonic polyposis, Juvenile colonic pol... 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
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Polyposis, Intestinal, With Multiple Exostoses
Multiple exostoses, Intestinal polyposis OMIM:175450
Desmoid Disease, Hereditary
Breast carcinoma, Desmoid tumors, Colon cancer, Colorectal polyposis OMIM:135290
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
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
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia OMIM:246470
Paraganglioma And Gastric Stromal Sarcoma
Paraganglioma, Neoplasm of the gastrointestinal tract OMIM:606864
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Desmoid tumors, Large intestinal polyposis, Adenomatous colonic polyposis, ... ORPHA:247798
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Serrated Polyposis Syndrome
Melanoma, Prostate cancer, Breast carcinoma, Biliary tract neoplasm, Bladder carcinoma, Colorecta... ORPHA:157798
Lynch Syndrome 8
Adenomatous colonic polyposis, Endometrial carcinoma, Colon cancer, Hereditary nonpolyposis color... OMIM:613244
Mismatch Repair Cancer Syndrome 4
Colon cancer, Non-Hodgkin lymphoma, Astrocytoma, Adenomatous colonic polyposis, Glioblastoma mult... OMIM:619101
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Colorectal Cancer
Renal cell carcinoma, Neoplasm of the stomach, Uterine leiomyosarcoma, Hereditary nonpolyposis co... OMIM:114500
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Papilloma, Colon cancer, Juvenile gastrointestinal polyposis, Multiple ga... ORPHA:480536
Li-Fraumeni Syndrome 2
Glioma, Meningioma, Breast carcinoma, Stomach cancer, Sarcoma OMIM:609265
Attenuated Familial Adenomatous Polyposis
Papilloma, Colorectal polyposis, Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Fibrom... ORPHA:220460
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma OMIM:612591
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Hereditary Mixed Polyposis Syndrome
Neoplasm of the rectum, Hyperplastic colonic polyposis, Hematochezia, Juvenile colonic polyposis,... ORPHA:157794
Birt-Hogg-Dube Syndrome
Cutaneous leiomyoma, Renal neoplasm, Renal cell carcinoma, Trichodiscoma, Colon cancer, Large int... OMIM:135150
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Polymerase Proofreading-Related Adenomatous Polyposis
Neoplasm of the rectum, Brain neoplasm, Breast carcinoma, Colorectal polyposis, Adenomatous colon... ORPHA:447877
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Multiple gastric polyps, Duodenal polyposis, Small intestinal polyposis, Adenomatou... ORPHA:329971
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Ganglioneuroma
Multiple intestinal neurofibromatosis, Colorectal polyposis, Ganglioneuroma, Hamartomatous polypo... ORPHA:251992
Familial Adenomatous Polyposis 3
Bladder neoplasm, Colon cancer, Meningioma, Prostate cancer, Breast carcinoma, Pancreatic adenoca... OMIM:616415
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, Colon cancer, T-cell acute lymphoblastic leukemias OMIM:619096
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Gastric adenocarcinoma, Melena, Fundic gland polyposis OMIM:619182
Nk-Cell Enteropathy
Lymphoproliferative disorder, Gastric ulcer, Intestinal polyp, Gastroesophageal reflux, Hematoche... ORPHA:263665
Familial Adenomatous Polyposis 4
Gastric adenocarcinoma, Duodenal polyposis, Astrocytoma, Uterine leiomyoma, Thyroid adenoma, Aden... OMIM:617100
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Bladder neoplasm, Neoplasm of the rectum, Seborrheic keratosis, Colon cancer, Meningioma, Breast ... ORPHA:454840
Desmoid Tumor
Malabsorption, Intestinal obstruction, Fibroma, Gastrointestinal hemorrhage, Neoplasm of the skin... ORPHA:873
Hirschsprung Disease
Neoplasm of the thyroid gland, Intestinal obstruction, Functional abnormality of the gastrointest... ORPHA:388
Li-Fraumeni Syndrome
Acute lymphoblastic leukemia, Colorectal polyposis, Astrocytoma, Neoplasm of the central nervous ... ORPHA:524
Muir-Torre Syndrome
Renal neoplasm, Adenoma sebaceum, Malignant genitourinary tract tumor, Neoplasm of the liver, Col... ORPHA:587
Tumor Predisposition Syndrome 2
Colon cancer, Meningioma, Juvenile type ovarian granulosa cell tumor, Uveal melanoma, Schwannoma,... OMIM:619975
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Astrocytoma, Pilomatrixoma, Papillary thyroid carcinoma, Odontoma, Adenom... ORPHA:247806
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormal rib morphology, Pectus carinatum, Scoliosis ORPHA:3268
Cronkhite-Canada Syndrome
Neoplasm, Colon cancer, Furrowed tongue, Malabsorption, Stomach cancer, Hamartomatous polyposis, ... ORPHA:2930
Carcinoma Of Esophagus
Gastroesophageal reflux, Abnormal intestine morphology, Dysphagia, Esophageal neoplasm, Barrett e... ORPHA:70482
Cowden Syndrome 7
Hemangioma, Papilloma, Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Intestinal p... OMIM:616858
Isolated Klippel-Feil Syndrome
Anal atresia, Scoliosis, Abnormal sacrum morphology, Short neck, Abnormality of the vertebral col... ORPHA:2345
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Hemivertebrae, Vertebral clefting, Rib fusion, Vertebral segmentation defect OMIM:608681
Barrett Esophagus
Barrett esophagus, Gastroesophageal reflux, Esophageal ulceration, Esophageal carcinoma OMIM:614266
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Multiple Intestinal Atresia
Duodenal stenosis, Gastrointestinal atresia ORPHA:2300
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Hypoplasia of the odontoid pro... OMIM:609813
Gardner Syndrome
Adrenocortical adenoma, Astrocytoma, Pilomatrixoma, Papillary thyroid carcinoma, Odontoma, Adenom... ORPHA:79665
Juvenile Nasopharyngeal Angiofibroma
Juvenile colonic polyposis, Juvenile nasopharyngeal angiofibroma ORPHA:289596
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Scoliosis, Short neck, Missing ribs, Cleft palate, Abnormal rib morph... ORPHA:1797
Muir-Torre Syndrome
Benign gastrointestinal tract tumors, Benign genitourinary tract neoplasm, Adenoma sebaceum, Mali... OMIM:158320
Jejunal Atresia
Jejunal atresia OMIM:243600
Sprengel Deformity
Scoliosis, Hemivertebrae, Cervical segmentation defect, Rib segmentation abnormalities, Spina bif... OMIM:184400
Spondylocostal Dysostosis 5
Scoliosis, Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Missing ribs, Hemive... OMIM:122600
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyoma, Multiple cutaneous leiomyomas, Papillary renal cell carcinoma type 2, Uterin... ORPHA:523
Heart Defects-Limb Shortening Syndrome
Abnormal rib morphology, Narrow chest, Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Endosteal Hyperostosis, Worth Type
Abnormal rib morphology, Clavicular sclerosis, Sclerotic vertebral body, Abnormal form of the ver... ORPHA:2790
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the rectum, Papilloma, Neoplasm of the liver, Neoplasm of the lung, Anal canal squamo... ORPHA:424019
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Scoliosis, Irregular chondrocostal junctions, Slender build, Irregular vertebral... OMIM:187760
Lynch Syndrome
Hepatocellular carcinoma, Neoplasm of the rectum, Neoplasm of the thyroid gland, Colon cancer, Ma... ORPHA:144
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Protein-losing enteropathy, Duodenitis, Esophagitis, Gastritis, Pa... OMIM:619079
Familial Adenomatous Polyposis 1
Carcinoma, Adrenocortical adenoma, Colon cancer, Small intestine carcinoid, Multiple gastric poly... OMIM:175100
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis, Patent ductus arteriosus ORPHA:2978
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Abnormal esophagus physiology, Gastroesophageal reflux, Dysphagia, Gastrointestinal hemorrhage, A... ORPHA:2198
Kyphomelic Dysplasia
Lateral clavicle hook, Missing ribs, Anterior rib cupping, Undulate ribs, Narrow chest, Short tho... ORPHA:1801
Spondylocostal Dysostosis 1, Autosomal Recessive
Abnormality of the odontoid process, Vertebral fusion, Short neck, Hemivertebrae, Back pain, Rib ... OMIM:277300
Metatropic Dysplasia
Scoliosis, Long thorax, Kyphosis, Cleft palate, Abnormal rib morphology, Narrow chest, Hypoplasti... ORPHA:2635
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Neoplasm of the pancreas, Prostate cancer, Breast carcinoma, Osteo... OMIM:151623
Mismatch Repair Cancer Syndrome 3
Neoplasm of the rectum, Colon cancer, Glioblastoma multiforme, Astrocytoma, Lymphoma, Lisch nodul... OMIM:619097
Turcot Syndrome With Polyposis
Astrocytoma, Pilomatrixoma, Papillary thyroid carcinoma, Basal cell carcinoma, Adenomatous coloni... ORPHA:99818
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Tracheoesophageal fistula, Intestinal atresia, Abnormal form of the vert... ORPHA:93941
Lynch Syndrome 4
Ovarian neoplasm, Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma OMIM:614337
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Adenocarcinoma of the small intestine, Leukemia, Non-Hodgkin lymphoma, A... OMIM:276300
Visceral Myopathy 2
Intestinal malrotation, Gastroesophageal reflux, Megaduodenum, Hiatus hernia, Volvulus, Intestina... OMIM:619350
Familial Adenomatous Polyposis
Adenocarcinoma of the small intestine, Colorectal polyposis, Astrocytoma, Papillary thyroid carci... ORPHA:733
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Short neck, Obesity, Abnormal rib morphology, Hemivertebrae, Abnormal form of ... ORPHA:2234
Mosaic Trisomy 14
High palate, Short neck, Cleft palate, Abnormal rib morphology, Failure to thrive, Ectopic anus, ... ORPHA:1703
Diaphanospondylodysostosis
Enlarged thorax, Absent or minimally ossified vertebral bodies, Short neck, Missing ribs, Cleft p... ORPHA:66637
Juvenile Polyposis Syndrome
Rectal polyposis, Intestinal polyp, Juvenile colonic polyposis, Hematochezia, Colon cancer, Neopl... ORPHA:2929
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Steatorrhea, Fat malabsorption OMIM:613291
Oligodontia-Colorectal Cancer Syndrome
Breast carcinoma, Adenomatous colonic polyposis, Colon cancer, Fundic gland polyposis OMIM:608615
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Abnormality of the gastrointestinal tract, Neoplasm, Renal cell carcinoma... ORPHA:2869
Spondylocostal Dysostosis 4, Autosomal Recessive
Pectus excavatum, Scoliosis, Vertebral fusion, Abnormality of the odontoid process, Short neck, M... OMIM:613686
Cowden Syndrome 6
High palate, Scoliosis, Pectus excavatum, Meningioma, Breast carcinoma, Kyphosis, Hamartomatous p... OMIM:615109
Cowden Syndrome 5
High palate, Scoliosis, Pectus excavatum, Meningioma, Breast carcinoma, Kyphosis, Hamartomatous p... OMIM:615108
Lymphangiectasia, Intestinal
Malabsorption, Intestinal lymphangiectasia, Prominent floating ribs OMIM:152800
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Crypt hyperplasia OMIM:613217
Chronic Diarrhea Due To Glucoamylase Deficiency
Malabsorption, Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lac... ORPHA:103907
Lynch Syndrome 5
Neoplasm of the pancreas, Ovarian neoplasm, Endometrial carcinoma, Hereditary nonpolyposis colore... OMIM:614350
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Increased mitochondrial number OMIM:619063
Gastrointestinal Stromal Tumor
Neoplasm of the rectum, Intestinal obstruction, Neoplasm of the stomach, Dysphagia, Gastrointesti... ORPHA:44890
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Jejunoileal ulceration, Fat malabsorption OMIM:221400
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends ORPHA:168555
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Cowden Syndrome 1
High palate, Scoliosis, Carcinoma, Pectus excavatum, Meningioma, Breast carcinoma, Kyphosis, Ovar... OMIM:158350
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hemangioma, Intestinal polyp, Lactose intolerance ORPHA:457485
Becker Nevus Syndrome
Pectus excavatum, Scoliosis, Kyphosis, Pectus carinatum, Hamartoma, Spina bifida occulta, Supernu... ORPHA:64755
Osteogenesis Imperfecta, Type Ix
Beaded ribs, Scoliosis, Pectus excavatum, Kyphosis, Platyspondyly, Pectus carinatum OMIM:259440
Septopreoptic Holoprosencephaly
Dysphagia, Abnormal rib morphology, Abnormal vertebral morphology, Anteriorly placed anus ORPHA:280195
Peutz-Jeghers Syndrome
Precocious puberty with Sertoli cell tumor, Uterine neoplasm, Neoplasm of the pancreas, Multiple ... OMIM:175200
Bannayan-Riley-Ruvalcaba Syndrome
Pectus excavatum, Neoplasm, Neoplasm of the adrenal cortex, Uterine neoplasm, Scoliosis, Meningio... ORPHA:109
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Steatorrhea, Decreased intestinal transit time, Intestinal ... OMIM:615237
Familial Multinodular Goiter
Renal cell carcinoma, Pleuropulmonary blastoma, Testicular seminoma, Colorectal polyposis, Piloma... ORPHA:276399
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Protein-losing enteropathy OMIM:615863
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
High palate, Scoliosis, Obesity, Hemivertebrae, Abnormal rib morphology, Sprengel anomaly, Abnorm... ORPHA:2180
Aicardi Syndrome
Gastroesophageal reflux, Scoliosis, Butterfly vertebrae, Malabsorption, Hiatus hernia, Missing ri... ORPHA:50
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Thoracic dysplasia, Horizontal ribs, Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Obe... OMIM:615633
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Glossitis, Hematochezia, Malabsorption, Xerostomia, Protein-losing enteropathy, Hamartomatous pol... OMIM:175500
Hirschsprung Disease, Susceptibility To, 3
Long-segment aganglionic megacolon, Total colonic aganglionosis, Aganglionic megacolon OMIM:613711
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Abnormal rib morphology, Pectus excavatum, Hypoplastic distal segments of scapulae, Cleft palate OMIM:602196
Pancreatic Lipase Deficiency
Steatorrhea, Fat malabsorption OMIM:614338
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology, Vertebral segmentation defect, Short neck ORPHA:2578
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Renal cortical adenoma, Papillary renal cell carcinoma, Colon cancer, Breast carcinoma, Papillary... ORPHA:97290
Becker Nevus Syndrome
Hemivertebrae, Pectus excavatum, Scoliosis, Cervical ribs OMIM:604919
Cap Polyposis
Atrophic gastritis, Colorectal polyposis, Hematochezia ORPHA:160148
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Short neck, Kyphosis, Abnormal rib morphology, Abnormal clavicle morphology, Fu... ORPHA:2522
Diarrhea 9
Villous atrophy OMIM:618168
Alpha-Heavy Chain Disease
Malabsorption, Abnormal small intestine morphology ORPHA:100025
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy OMIM:618662
Axial Mesodermal Dysplasia Spectrum
Anal atresia, Gastroesophageal reflux, Abnormal intestine morphology, Scoliosis, Short neck, Miss... ORPHA:1834
Secondary Short Bowel Syndrome
Malabsorption, Steatorrhea, Volvulus, Villous atrophy, Aganglionic megacolon, Abnormal small inte... ORPHA:95427
Metatropic Dysplasia
Long coccyx, Scoliosis, Short ribs, Cupped ribs, Relatively short spine, Anisospondyly, Kyphosis,... OMIM:156530
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Pyloric stenosis, Patent ductus arteriosus, Intestinal malr... OMIM:300048
Basal Cell Nevus Syndrome 1
Scoliosis, Odontogenic keratocysts of the jaw, Vertebral wedging, Cleft palate, Basal cell carcin... OMIM:109400
Cat-Eye Syndrome
Abnormal rib morphology, Anal atresia ORPHA:195
Mccune-Albright Syndrome
Intestinal polyposis, Pituitary adenoma OMIM:174800
Prune Belly Syndrome
Anal atresia, Scoliosis, Pectus excavatum, Volvulus, Abnormal rib morphology, Intestinal atresia,... ORPHA:2970
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Short thorax, Short neck, Kyphosis, Cleft palate, Abnormal rib morphology, Rib segment... ORPHA:2311
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Short ribs, Horizontal ribs, Narrow chest, Lateral clavicle hook OMIM:617405
Poland Syndrome
Hemivertebrae, Short ribs, Sprengel anomaly, Rib fusion OMIM:173800
Klippel-Feil Syndrome 1, Autosomal Dominant
Scoliosis, Short neck, Cleft palate, Abnormal rib morphology, Abnormal vertebral segmentation and... OMIM:118100
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the ribs, Thoracic hypoplasia, Scoliosis, Posterior wedging of vertebral bo... ORPHA:168549
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short neck, Platyspondyly, Abnormal rib morphology, Narrow chest, Abnormal clavicle morphology ORPHA:93267
Benign Schwannoma
Vestibular schwannoma, Abnormal parotid gland morphology, Scleral schwannoma, Schwannoma, Periphe... ORPHA:252164
Vascular Hyalinosis
Malabsorption, Hematochezia, Protein-losing enteropathy OMIM:277175
Cowden Syndrome
Adenoma sebaceum, Scoliosis, Cavernous hemangioma, Meningioma, Colorectal polyposis, Fibroma, Neo... ORPHA:201
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Familial Melanoma
Neoplasm of the pancreas, Melanoma, Neoplasm of the breast, Neoplasm of the stomach ORPHA:618
Fibrochondrogenesis 2
Thoracic hypoplasia, Short ribs, Platyspondyly, Bell-shaped thorax, Cupped ribs OMIM:614524
Diarrhea 12, With Microvillus Atrophy
Microvillus inclusions, Villous atrophy, Microvillar PAS-positive secretory granules OMIM:619445
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Aplasia/Hypoplasia of the tongue, Missing ribs, Hemivertebrae, Abnormal rib morphology, Abnormal ... ORPHA:2759
Juvenile Polyposis Of Infancy
Hemangioma, Hematochezia, Protein-losing enteropathy, High, narrow palate, Hamartomatous polyposi... ORPHA:79076
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Anal atresia, Scoliosis, Vertebral fusion, Supernumerary vertebrae, Short neck, Short ribs, Missi... OMIM:271520
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Femoral-Facial Syndrome
Abnormal sacrum morphology, Scoliosis, Cleft palate, Abnormal rib morphology, Sprengel anomaly, R... ORPHA:1988
Diastrophic Dysplasia
Scoliosis, Kyphosis, Visceral angiomatosis, Cleft palate, Abnormal rib morphology, Abnormal clavi... ORPHA:628
Juberg-Hayward Syndrome
Abnormal rib morphology, Scoliosis, Abnormal vertebral morphology, Anteriorly placed anus ORPHA:2319
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormal rib morphology, Abnormally ossified vertebrae, Intestinal malrotation ORPHA:3035
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Irregular vertebral endplates, Short neck, Thin ribs, Platyspondyly, Narrow vertebral ... OMIM:618395
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Anterior rib cupping, Cleft palate, Platyspondyly, Pectus carinatum, C1-C2 subluxation... OMIM:184250
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Abnormality of the vertebral column, Abnormal rib morphology, Sprengel anomaly, Cleft palate OMIM:601076
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Thoracolumbar scoliosis, Anal atresia, Cervical ribs, Sprengel anomaly OMIM:601389
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption OMIM:607748
Fibrochondrogenesis
Short neck, Short ribs, Broad ribs, Hypoplastic scapulae, Cleft palate, Abnormal rib morphology, ... ORPHA:2021
Mosaic Variegated Aneuploidy Syndrome
Neoplasm, Duodenal atresia, Colon cancer, Acute lymphoblastic leukemia, Myelodysplasia, Cleft pal... ORPHA:1052
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Scoliosis, Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Beaking of vertebr... OMIM:609616
Jeune Syndrome
Abnormal rib morphology, Narrow chest, Abnormal clavicle morphology, Short thorax, Abnormal stern... ORPHA:474
Juvenile Polyposis Syndrome
Hematochezia, Colon cancer, Multiple gastric polyps, Neoplasm of the stomach, Intussusception, Re... OMIM:174900
Campomelia, Cumming Type
Abnormal intestine morphology, Myelodysplasia, Cleft palate, Abnormal rib morphology, Abnormal th... ORPHA:1318
Achondrogenesis Type 1B
Abnormal rib morphology, Narrow chest, Short thorax, Short neck ORPHA:93298
Cooper-Jabs Syndrome
Abnormal rib morphology, Missing ribs, Scoliosis, Anteriorly placed anus ORPHA:1488
Osteogenesis Imperfecta, Type Ii
Thoracic hypoplasia, Beaded ribs, Small for gestational age, Thin ribs, Platyspondyly, Bell-shape... OMIM:166210
Neuroblastoma, Susceptibility To, 2
Ganglioneuroblastoma, Neuroblastoma, Aganglionic megacolon, Ganglioneuroma OMIM:613013
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Three M Syndrome 2
High palate, Small for gestational age, Lumbar hyperlordosis, Short neck, Thin ribs, Scapular win... OMIM:612921
Schneckenbecken Dysplasia
Thoracic hypoplasia, Lateral clavicle hook, Ovoid vertebral bodies, Short neck, Short ribs, Anter... OMIM:269250
Pten Hamartoma Tumor Syndrome
Hemangioma, Neoplasm, Renal cell carcinoma, Papilloma, Colon cancer, Breast carcinoma, Ganglioneu... ORPHA:306498
Gastrointestinal Stromal Tumor
Neurofibroma, Gastrointestinal stroma tumor, Intestinal obstruction, Dysphagia OMIM:606764
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Steatorrhea, Villous atrophy, Abnormal large intestinal mucosa morph... ORPHA:92050
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Abnormal rib morphology, Short neck ORPHA:1486
Mesomelic Dysplasia, Kantaputra Type
Abnormal rib morphology, Vertebral segmentation defect ORPHA:1836
Renpenning Syndrome
Anal atresia, Pectus excavatum, High, narrow palate, Cleft palate, Abnormal rib morphology, Spren... ORPHA:3242
Meconium Ileus
Meconium ileus, Microcolon OMIM:614665
Familial Colorectal Cancer Type X
Hepatocellular carcinoma, Neoplasm of the rectum, Neoplasm of the thyroid gland, Renal neoplasm, ... ORPHA:440437
Intussusception
Intussusception OMIM:147710
Cartilage-Hair Hypoplasia
Esophageal atresia, Scoliosis, Lumbar hyperlordosis, Malabsorption, Asymmetry of the thorax, Agan... OMIM:250250
Adenocarcinoma Of The Anal Canal
Neoplasm of the rectum, Anal canal adenocarcinoma, Neoplasm of the liver, Neoplasm of the lung, I... ORPHA:424016
White Forelock With Malformations
Abnormal rib morphology, Spina bifida occulta, Sprengel anomaly ORPHA:2475
Acro-Renal-Mandibular Syndrome
High palate, Scoliosis, Aplasia/Hypoplasia of the tongue, Butterfly vertebrae, Short neck, Thin r... ORPHA:958
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Hematochezia, Malabsorption, Steatorrhea, Protein-losi... ORPHA:2070
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:276422
Mucopolysaccharidosis, Type X
Scoliosis, Spatulate ribs, Broad ribs, Broad clavicles, Platyspondyly, Posterior scalloping of ve... OMIM:619698
Carney-Stratakis Syndrome
Intestinal obstruction, Dysphagia, Paraganglioma, Gastrointestinal hemorrhage, Gastrointestinal s... ORPHA:97286
Mucopolysaccharidosis, Type Iva
Scoliosis, Short neck, Ovoid vertebral bodies, Cervical subluxation, Kyphosis, Platyspondyly, Pro... OMIM:253000
Holt-Oram Syndrome
Down-sloping shoulders, Pectus excavatum, Scoliosis, Kyphosis, Abnormal rib morphology, Abnormal ... ORPHA:392
Osteogenesis Imperfecta, Type Xvi
Beaded ribs, Small for gestational age, Vertebral compression fracture, Platyspondyly, Narrow che... OMIM:616229
Hereditary Hemorrhagic Telangiectasia
Cavernous hemangioma, Visceral angiomatosis, Esophageal varix, Gastrointestinal hemorrhage, Intes... ORPHA:774
Grant Syndrome
Abnormal rib morphology, Narrow chest, Sprengel anomaly, Abnormality of the glenoid fossa ORPHA:2097
Medulloblastoma
Neoplasm of the lung, Cerebellar medulloblastoma, Spinal cord tumor, Adenomatous colonic polyposi... ORPHA:616
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
High palate, Osteoma, Colon cancer, Short neck, Duodenal polyposis, Hepatoblastoma, Adenomatous c... ORPHA:261584
Achondrogenesis, Type Ia
Beaded ribs, Short thorax, Short neck, Short ribs, Flaring of rib cage, Hypoplastic scapulae, Sho... OMIM:200600
Mucopolysaccharidosis Type 6
Macroglossia, Ovoid vertebral bodies, Short neck, Broad ribs, Kyphosis, Failure to thrive ORPHA:583
Mucopolysaccharidosis Type 4
Scoliosis, Short neck, Kyphosis, Platyspondyly, Abnormal rib morphology, Spinal canal stenosis, P... ORPHA:582
Punctate Palmoplantar Keratoderma Type 1
Adenocarcinoma of the colon, Renal cell carcinoma, Melanoma, Adenocarcinoma of the small intestin... ORPHA:79501
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Ovoid vertebral bodies, Severe platyspondyly, Platyspondyly, Cupped ribs OMIM:608940
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Abnormal rib morphology ORPHA:93351
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Thoracic hypoplasia, Pectus excavatum, Lumbar hyperlordosis, Ovoid vertebral bodies, Platyspondyl... OMIM:608728
Pancreatic Colipase Deficiency
Steatorrhea, Fat malabsorption ORPHA:309108
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral endplates, Horizontal inferior border of scapula, Short neck, Abnorm... ORPHA:239
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal rib morphology, Tracheoesophageal fistula, Pectus carinatum, Hyperlordosis ORPHA:3068
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thoracic hypoplasia, Ovoid vertebral bodies, Short neck, Short ribs, Severe platyspondyly, Disc-l... OMIM:151210
Hypophosphatasia
Abnormal rib morphology, Failure to thrive in infancy, Narrow chest ORPHA:436
Achondrogenesis Type 1A
Multiple rib fractures, Narrow chest, Short thorax, Short neck ORPHA:93299
Sacral Agenesis With Vertebral Anomalies
Anal atresia, Persistent cloaca, Absence of the sacrum, Vertebral clefting, Abnormal vertebral mo... OMIM:615709
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis, Patent ductus arteriosus ORPHA:2547
Shwachman-Diamond Syndrome 1
Enlargement of the costochondral junction, Small for gestational age, Ovoid vertebral bodies, Ste... OMIM:260400
Cerebrofaciothoracic Dysplasia
Scoliosis, Short neck, Cleft palate, Hemivertebrae, Bifid ribs, Narrow chest, Sprengel anomaly, R... ORPHA:1394
Tylosis With Esophageal Cancer
Oral leukoplakia, Esophageal carcinoma OMIM:148500
Mitchell-Riley Syndrome
Anteriorly placed anus, Duodenal atresia, Malabsorption, Jejunal atresia, Intestinal malrotation,... OMIM:615710
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Thoracic hypoplasia, Beaded ribs, Small for gestational age, Short neck, Short ribs, Cleft palate... OMIM:616897
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy ORPHA:103910
3M Syndrome
Horizontal ribs, Scoliosis, Enlarged thorax, Short neck, Increased vertebral height, Thin ribs, K... ORPHA:2616
Osteogenesis Imperfecta, Type X
Thoracic hypoplasia, Scoliosis, Pyloric stenosis, Broad ribs, Thin ribs, Vertebral compression fr... OMIM:613848
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Thoracic hypoplasia, Anal atresia, Scoliosis, Horizontal ribs, Lateral clavicle hook, Short ribs,... OMIM:613091
Lethal Kniest-Like Dysplasia
Short neck, Coronal cleft vertebrae, Short ribs, Hypoplastic vertebral bodies, Anterior rib cuppi... ORPHA:2347
Disorder Of Bile Acid Synthesis
Fat malabsorption ORPHA:79168
Brachytelephalangic Chondrodysplasia Punctata
Cervical vertebral dysplasia, Gastroesophageal reflux, Butterfly vertebrae, Cervical spine instab... ORPHA:79345
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Abnormal rib morphology, Pectus carinatum, Kyphosis, Short neck ORPHA:3082
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Gastrointestinal carcinoma, Hematoc... OMIM:175050
Infantile-Onset X-Linked Spinal Muscular Atrophy
Cupped ribs, Short ribs, High palate, Kyphoscoliosis ORPHA:1145
Fibrochondrogenesis 1
Thoracic hypoplasia, Short neck, Long clavicles, Short ribs, Posterior vertebral hypoplasia, Thin... OMIM:228520
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Intestinal malrotation, Microcolon OMIM:619431
Holzgreve Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Abnormal rib morphology, Bifid tongue, Abnormally... ORPHA:2167
Alg1-Cdg
Abnormality of the gastrointestinal tract, Protein-losing enteropathy ORPHA:79327
Monosomy 9Q22.3
Cardiac fibroma, Pectus excavatum, Medulloblastoma, Short neck, Abnormality of the vertebral colu... ORPHA:77301
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Colonic Atresia
Colonic atresia, Peptic ulcer, Duodenal stenosis ORPHA:1198
Alg6-Cdg
Macroglossia, Protein-losing enteropathy ORPHA:79320
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Thin ribs, 11 pairs of ribs OMIM:300863
Vacterl/Vater Association
Anal atresia, Abnormal sacrum morphology, Cavernous hemangioma, Cleft palate, Abnormal rib morpho... ORPHA:887
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
High palate, Thoracic kyphosis, Short neck, Thin ribs, Anterior rib cupping, Platyspondyly, Promi... OMIM:300232
10Q22.3Q23.3 Microdeletion Syndrome
Intestinal polyposis ORPHA:276413
Achondrogenesis, Type Ii
Horizontal ribs, Short ribs, Cleft palate, Barrel-shaped chest, Absent vertebral body mineralization OMIM:200610
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Hypoperistalsis, Neoplasm of the heart, Intestinal mal... ORPHA:2241
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs OMIM:122860
Trigonocephaly 1
Meckel diverticulum, High, narrow palate OMIM:190440
Thoraco-Abdominal Enteric Duplication
Duodenal stenosis, Intestinal malrotation ORPHA:1759
Melnick-Needles Syndrome
Scoliosis, Short clavicles, Anisospondyly, Abnormal rib morphology, Narrow chest, Short thorax ORPHA:2484
Dysosteosclerosis
High palate, Irregular vertebral endplates, Short ribs, Hypoplastic vertebral bodies, Broad ribs,... OMIM:224300
Vertebral Hypersegmentation And Orofacial Anomalies
Pectus excavatum, Unilateral cleft palate, Six lumbar vertebrae, Submucous cleft hard palate, Sca... OMIM:619122
Trisomy 13
Scoliosis, Capillary hemangioma, Kyphosis, High, narrow palate, Cleft palate, Abnormal rib morpho... ORPHA:3378
Dyggve-Melchior-Clausen Disease
Enlargement of the costochondral junction, Scoliosis, Lumbar hyperlordosis, Thoracic kyphosis, Sh... OMIM:223800
Mungan Syndrome
Intestinal pseudo-obstruction, Hypoperistalsis, Barrett esophagus, Megaduodenum OMIM:611376
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Thoracic dysplasia, Horizontal ribs, Lateral clavicle hook, Short ribs, Cleft palate, Platyspondy... OMIM:263520
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal rib morphology ORPHA:2643
Martinez-Frias Syndrome
Intestinal hypoplasia, Duodenal atresia, Jejunal atresia, Tracheoesophageal fistula, Intestinal m... OMIM:601346
Craniosynostosis, Herrmann-Opitz Type
Abnormal rib morphology, Cleft palate ORPHA:2145
Poland Syndrome
Scoliosis, Short neck, Short ribs, Missing ribs, Asymmetry of the thorax, Aplasia/Hypoplasia of t... ORPHA:2911
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Vertebral fusion, Abnormal cervical curvature, Cleft palate OMIM:312150
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis OMIM:614328
Cole-Carpenter Syndrome
Abnormal rib morphology, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2050
Proximal 16P11.2 Microdeletion Syndrome
Scoliosis, Pyloric stenosis, Cleft palate, Failure to thrive, Rib fusion, Abnormal vertebral morp... ORPHA:261197
Pericardial And Diaphragmatic Defect
Intestinal malrotation, Meckel diverticulum, Morphological abnormality of the gastrointestinal tr... ORPHA:2847
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Villous atrophy, Protein-losing enteropathy OMIM:602579
Tetraamelia-Multiple Malformations Syndrome
Abnormal rib morphology, Abnormally ossified vertebrae, Anal atresia, Missing ribs ORPHA:3301
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Dysphagia, Beaking of vertebral bodies, Kyphoscoliosis, Ovoid thoracolumbar verte... OMIM:252930
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Hepatic hemangioma, Gastroesophageal reflux, Thin ribs, Dysphagia, Narrow chest, Abnormal thorax ... ORPHA:73230
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Patent ductus arteriosus OMIM:608104
Alagille Syndrome
Failure to thrive, Abnormal rib morphology, Spina bifida occulta, Butterfly vertebral arch, Verte... ORPHA:52
Phaver Syndrome
Abnormal rib morphology, Butterfly vertebrae, Abnormal form of the vertebral bodies ORPHA:2876
Refractory Celiac Disease
Malabsorption, Villous atrophy, Protein-losing enteropathy, Jejunitis ORPHA:398063
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Ileal ulcer OMIM:616744
Familial Pancreatic Carcinoma
Melanoma, Neoplasm of the liver, Colon cancer, Breast carcinoma, Ovarian carcinoma, Pancreatic ad... ORPHA:1333
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy OMIM:618154
Aicardi Syndrome
Hemangioma, Scoliosis, Carcinoma, Butterfly vertebrae, Metastatic angiosarcoma, Hiatus hernia, Mi... OMIM:304050
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Vertebral fusion, Abnormal cervical curvature, Cleft palate OMIM:253290
Mucopolysaccharidosis, Type Iiia
Scoliosis, Thickened ribs, Ovoid thoracolumbar vertebrae OMIM:252900
Congenital Disorder Of Glycosylation, Type Iig
High palate, Butterfly vertebrae, Short neck, Failure to thrive in infancy, Cleft palate, Posteri... OMIM:611209
Cartilage-Hair Hypoplasia
Scoliosis, Short neck, Malabsorption, Sacral dimple, Aganglionic megacolon, Abnormal rib morpholo... ORPHA:175
Cole-Carpenter Syndrome 2
High palate, Pectus excavatum, Thin ribs, Kyphosis, Platyspondyly OMIM:616294
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Fused cervical vertebrae, Failure to thrive in infancy, Broad ribs, Flaring of rib cage OMIM:612852
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Thoracic hypoplasia, Small for gestational age, Coat hanger sign of ribs, Large for gestational age ORPHA:254534
Pontine Tegmental Cap Dysplasia
Hemivertebrae, Rib fusion, Scoliosis, Failure to thrive OMIM:614688
Visceral Myopathy 1
Megaduodenum, Aganglionic megacolon, Dysphagia, Intestinal pseudo-obstruction, Microcolon OMIM:155310
Duodenal Atresia
Duodenal atresia OMIM:223400
Osteogenesis Imperfecta, Type Iii
Thin ribs, Biconcave vertebral bodies, Scoliosis, Kyphosis OMIM:259420
Dextrocardia
Abnormal rib morphology, Intestinal malrotation, Meckel diverticulum, Neuroblastoma ORPHA:1666
Aspergillosis
Abnormality of the vertebral column, Abnormal esophagus morphology, Abnormal rib morphology, Hema... ORPHA:1163
Radiation Proctitis
Rectal fistula, Hematochezia, Intestinal obstruction, Rectal abscess, Abnormal gastrointestinal v... ORPHA:70475
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Decreased body weight, Cleft palate OMIM:618265
Mpi-Cdg
Gastrointestinal hemorrhage, Protein-losing enteropathy ORPHA:79319
Cat Eye Syndrome
Rectal fistula, Anal atresia, Rectal atresia, Volvulus, Cleft palate, Patent ductus arteriosus, I... OMIM:115470
Mednik Syndrome
Jejunal atresia, Volvulus, Microcolon OMIM:609313
Osteogenesis Imperfecta, Type Xviii
Biconcave vertebral bodies, Thin ribs, Vertebral compression fracture OMIM:617952
Paragangliomas 4
Renal cell carcinoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemodectoma, Extraadrenal ... OMIM:115310
Cleidocranial Dysplasia
Down-sloping shoulders, Abnormal sacrum morphology, Scoliosis, Hypoplastic scapulae, Short clavic... ORPHA:1452
Cerebrocostomandibular Syndrome
Thoracic hypoplasia, High palate, Gastroesophageal reflux, Scoliosis, Anteriorly placed anus, Sho... OMIM:117650
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology ORPHA:2772
Congenital Alveolar Capillary Dysplasia
Anal atresia, Intestinal malrotation, Volvulus, Aganglionic megacolon, Patent ductus arteriosus, ... ORPHA:210122
Gm1-Gangliosidosis, Type I
Scoliosis, Short neck, Hypoplastic vertebral bodies, Kyphosis, Thickened ribs, Beaking of vertebr... OMIM:230500
Mucopolysaccharidosis, Type Ivb
Scoliosis, Ovoid vertebral bodies, Cervical subluxation, Kyphosis, Platyspondyly, Prominent stern... OMIM:253010
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dysphagia, Meckel diverticulum ORPHA:163961
Scleroderma
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Abnormal small intestine morp... ORPHA:801
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Scoliosis, Lumbar hyperlordosis, Irregular chondrocostal junctions, Short ribs, Cupped ribs, Flat... OMIM:250420
Cenani-Lenz Syndrome
Abnormal rib morphology, Scoliosis, High, narrow palate, Abnormal form of the vertebral bodies ORPHA:3258
Mosaic Trisomy 8
High palate, Scoliosis, Short neck, Cleft palate, Abnormal rib morphology, Narrow chest, Vertebra... ORPHA:96061
Proprotein Convertase 1/3 Deficiency
Malabsorption, Villous atrophy OMIM:600955
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Abnormal small intestine morp... ORPHA:90291
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Horizontal ribs, Lateral clavicle hook, Short ribs, Narrow chest OMIM:617895
Microphthalmia, Syndromic 3
Esophageal atresia, Butterfly vertebrae, Vertebral fusion, Missing ribs, Hemivertebrae, Hypothala... OMIM:206900
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal rib morphology, Vertebral segmentation defect ORPHA:1120
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae OMIM:252920
Greenberg Dysplasia
Thoracic hypoplasia, Beaded ribs, Absent or minimally ossified vertebral bodies, Long clavicles, ... OMIM:215140
Autosomal Dominant Centronuclear Myopathy
Thin ribs, Cavernous hemangioma, Pyloric stenosis ORPHA:169189
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Microcolon OMIM:619362
Trisomy 1Q
Abnormal rib morphology, Anal atresia, Short thorax, Cleft palate ORPHA:261344
Microvillus Inclusion Disease
Villous atrophy, Abnormality of small intestinal villus morphology ORPHA:2290
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
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Decreased body weight OMIM:614833
Radio-Renal Syndrome
Abnormal form of the vertebral bodies, Abnormal rib morphology, High, narrow palate, Short neck ORPHA:3015
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal rib morphology, Short ribs, Broad ribs, Abnormal sternum morphology ORPHA:2519
Cantú Syndrome
Ovoid vertebral bodies, Short neck, Broad ribs, Platyspondyly, Narrow chest, Cuboid-shaped verteb... ORPHA:1517
Kagami-Ogata Syndrome
Thoracic hypoplasia, Coat hanger sign of ribs, Short neck, Hepatoblastoma, Bell-shaped thorax, Ky... ORPHA:254519
Familial Osteodysplasia, Anderson Type
Scoliosis, Missing ribs, Kyphosis, Abnormal rib morphology, Aplastic clavicle, Abnormal form of t... ORPHA:2769
Cog8-Cdg
Protein-losing enteropathy ORPHA:95428
Occipital Horn Syndrome
High palate, Pectus excavatum, Hiatus hernia, Exostoses, Pelvic bone exostoses, Bladder carcinoma... OMIM:304150
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Thin ribs ORPHA:163966
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Bell-shaped thorax, Horizontal ribs, Failure to thrive OMIM:614857
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Fat malabsorption, Acholic stools OMIM:607765
Beckwith-Wiedemann Syndrome
Macroglossia, Neoplasm, Gonadoblastoma, Hepatoblastoma, Adrenocortical carcinoma, Cleft palate, L... ORPHA:116
Short-Rib Thoracic Dysplasia 12
Thoracic dysplasia, Horizontal ribs, Short neck, Median cleft lip and palate, Short ribs, Hypopla... OMIM:269860
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Anal atresia, Horizontal ribs, Lateral clavicle hook, Long thorax, Short neck, Short ribs, Cleft ... OMIM:617925
Fg Syndrome Type 1
Anal atresia, Malrotation of colon, High palate, Gastroesophageal reflux, Pyloric stenosis, Sacra... ORPHA:93932
Multiple Pterygium-Malignant Hyperthermia Syndrome
Pectus excavatum, Scoliosis, Capillary hemangioma, Kyphosis, Cleft palate, Abnormal rib morphology ORPHA:2215
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatocellular carcinoma, Fat malabsorption OMIM:601847
Schwartz-Jampel Syndrome
High palate, Scoliosis, Pectus excavatum, Odontogenic neoplasm, Short neck, Kyphosis, Cachexia, S... ORPHA:800
Lethal Congenital Contracture Syndrome 10
Macroglossia, High palate, Short neck, Broad ribs, Narrow palate, Narrow chest, Thoracic scoliosis OMIM:617022
Autosomal Recessive Multiple Pterygium Syndrome
High palate, Scoliosis, Pectus excavatum, Cleft palate, Failure to thrive, Spina bifida occulta, ... ORPHA:2990
Hurler Syndrome
Macroglossia, Scoliosis, Short neck, Abnormal rib morphology, Spinal canal stenosis, Abnormal cla... ORPHA:93473
Bent Bone Dysplasia Syndrome 2
Butterfly vertebrae, Short neck, Coronal cleft vertebrae, Short ribs, Thin ribs, Platyspondyly, S... OMIM:620076
Fibrous Dysplasia Of Bone
Scoliosis, Cutaneous myxoma, Abnormal lumbar spine morphology, Thyroid carcinoma, Abnormal rib mo... ORPHA:249
Osteogenesis Imperfecta, Type Viii
Scoliosis, Thin ribs, Kyphosis, Vertebral compression fracture, Platyspondyly, Barrel-shaped chest OMIM:610915
Meier-Gorlin Syndrome 1
High palate, Small for gestational age, Lateral clavicle hook, Short ribs, Thin ribs, Abnormal ri... OMIM:224690
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
High palate, Pectus excavatum, Eunuchoid habitus, Thin ribs, Lumbar hemivertebrae ORPHA:2463
Mucolipidosis Iii Alpha/Beta
Short ribs, Broad ribs, Scoliosis OMIM:252600
Oculocerebrocutaneous Syndrome
Abnormal rib morphology, Exostoses, Missing ribs ORPHA:1647
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
High palate, Scoliosis, Vertebral fusion, Pectus excavatum, Short neck, Sacral dimple, Cleft pala... OMIM:213980
Kyphomelic Dysplasia
Thoracic hypoplasia, Lateral clavicle hook, Anterior rib cupping, Undulate ribs, Cleft palate, Pl... OMIM:211350
Cog1-Cdg
Rib fusion, High palate, Butterfly vertebrae, Short neck, Failure to thrive, Posterior rib gap, I... ORPHA:263508
Lethal Congenital Contracture Syndrome 5
Small for gestational age, Thin ribs OMIM:615368
Acrorenal-Mandibular Syndrome
High palate, Butterfly vertebrae, Missing ribs, Thin ribs, Hypoplastic scapulae, Hemivertebrae, A... OMIM:200980
Gracile Bone Dysplasia
Ankyloglossia, Thin ribs, Failure to thrive OMIM:602361
Kagami-Ogata Syndrome
Bell-shaped thorax, Thin ribs, Kyphoscoliosis, Long clavicles OMIM:608149
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Ileal atresia, Microcolon, Patent ductus arteriosus OMIM:619351
Antley-Bixler Syndrome
Abnormal rib morphology, Narrow chest, Cleft palate ORPHA:83
Otopalatodigital Syndrome Type 2
Scoliosis, Cleft palate, Abnormal rib morphology, Failure to thrive, Narrow chest, Glossoptosis, ... ORPHA:90652
Autosomal Dominant Popliteal Pterygium Syndrome
Abnormal rib morphology, Scoliosis, Cleft palate ORPHA:1300
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Anal atresia, Horizontal ribs, Short ribs, Cleft palate, Hamartoma of tongue, Bell-shaped thorax,... OMIM:616300
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Thoracic hypoplasia, Horizontal ribs, Ovoid vertebral bodies, Thoracolumbar scoliosis, Kyphosis, ... OMIM:618019
Congenital Tracheal Stenosis
Anal atresia, Duodenal atresia, Morphological abnormality of the gastrointestinal tract, Abnormal... ORPHA:141127
Serkal Syndrome
Malrotation of small bowel ORPHA:139466
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, Abnormal rib morphology, Abnormal scapula morphology ORPHA:93317
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Neoplasm of the urethra, Abnormality of the anus, Colitis, E... ORPHA:2908
Frontometaphyseal Dysplasia 1
High palate, Scoliosis, Coat hanger sign of ribs, Fused cervical vertebrae, Cleft palate, Scapula... OMIM:305620
Shprintzen-Goldberg Craniosynostosis Syndrome
High palate, Scoliosis, Gastroesophageal reflux, Lateral clavicle hook, Pectus excavatum, Thin ri... OMIM:182212
Cholestasis, Progressive Familial Intrahepatic, 1
Fat malabsorption OMIM:211600
Multiple Pterygium Syndrome, Escobar Variant
Down-sloping shoulders, High palate, Scoliosis, Short neck, Thoracolumbar scoliosis, Long clavicl... OMIM:265000
Osteopathia Striata With Cranial Sclerosis
Anal atresia, High palate, Gastroesophageal reflux, Scoliosis, Bifid uvula, Straight clavicles, P... OMIM:300373
Mucopolysaccharidosis, Type Vi
Macroglossia, Lumbar hyperlordosis, Ovoid vertebral bodies, Anterior wedging of L2, Anterior wedg... OMIM:253200
Craniometadiaphyseal Dysplasia
Broad ribs, High palate, Scoliosis OMIM:269300
Short Rib-Polydactyly Syndrome
Thoracic hypoplasia, Horizontal ribs, Absent or minimally ossified vertebral bodies, Short ribs, ... ORPHA:1505
Scedosporiosis
Abnormal jejunum morphology ORPHA:449280
Severe Congenital Nemaline Myopathy
Dysphagia, Abnormal thorax morphology, Thin ribs ORPHA:171430
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Fat malabsorption OMIM:214950
Pyknoachondrogenesis
Horizontal ribs, Enlarged thorax, Short ribs, Poorly ossified vertebrae, Unossified sacrum, Short... ORPHA:3003
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
High palate, Decreased body weight, Ovoid vertebral bodies, Irregular vertebral endplates, Short ... OMIM:271640
Xylt1-Cdg
Broad ribs, Truncal obesity, Short clavicles, Cleft palate ORPHA:370930
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Pyloric stenosis OMIM:616395
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption ORPHA:79302
Mucopolysaccharidosis, Type Iiid
Macroglossia, Short neck, Hypoplastic vertebral bodies, Thickened ribs, Dysphagia, Thoracic scoli... OMIM:252940
Kenny-Caffey Syndrome, Type 1
Thin clavicles, Thin ribs, Long clavicles OMIM:244460
Myotubular Myopathy With Abnormal Genital Development
High palate, Thin ribs OMIM:300219
Chylomicron Retention Disease
Steatorrhea, Fat malabsorption ORPHA:71
Hallermann-Streiff Syndrome
High palate, Scoliosis, Small for gestational age, Pectus excavatum, Thin ribs, Decreased number ... OMIM:234100
Sclerosteosis 1
Sclerotic vertebral endplates, Broad ribs, Sclerotic scapulae, Broad clavicles OMIM:269500
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Ileus, Microcolon, Aganglionic megacolon ORPHA:163746
Acrocapitofemoral Dysplasia
Pectus excavatum, Scoliosis, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ribs, Pectus car... OMIM:607778
Carney Triad
Adrenocortical adenoma, Pheochromocytoma, Gastrointestinal stroma tumor, Gastrointestinal hemorrh... ORPHA:139411
Autosomal Recessive Kenny-Caffey Syndrome
Thin clavicles, Thin ribs ORPHA:93324
Osteogenesis Imperfecta
Thoracic hypoplasia, Small for gestational age, Scoliosis, Pectus excavatum, Intestinal obstructi... ORPHA:666
Hyperparathyroidism, Transient Neonatal
Gastroesophageal reflux, Short ribs, Thin ribs, Undulate ribs, Narrow chest, Fractured rib OMIM:618188
Bare Lymphocyte Syndrome, Type Ii
Malabsorption, Villous atrophy, Colitis OMIM:209920
Congenital Bile Acid Synthesis Defect Type 2
Steatorrhea, Fat malabsorption ORPHA:79303
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Narrow palate, Intestinal lymphangiectasia, Protein-losing enteropathy OMIM:235510
Wolf-Hirschhorn Syndrome
Hemangioma, Scoliosis, Abnormal thorax morphology, Abnormality of the vertebral column, Sacral di... ORPHA:280
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Protein-losing enteropathy, Cleft palate OMIM:235255
Oculoskeletodental Syndrome
Macroglossia, Protein-losing enteropathy OMIM:618440
Van Den Ende-Gupta Syndrome
High palate, Pectus excavatum, Lateral clavicle hook, Short ribs, Thin ribs, Sacral dimple, Hypop... OMIM:600920
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal lymphangiectasia, Functional abnorma... ORPHA:90362
Weill-Marchesani Syndrome 1
Scoliosis, Lumbar hyperlordosis, Broad ribs, Spinal canal stenosis, Narrow palate OMIM:277600
Schinzel-Giedion Midface Retraction Syndrome
Macroglossia, Sacrococcygeal teratoma, Short neck, Hypoplasia of first ribs, Long clavicles, Broa... OMIM:269150
Campomelic Dysplasia
Absent sternal ossification, High palate, Scoliosis, Thoracic hypoplasia, Cervical spine instabil... OMIM:114290
Fryns Syndrome
Thoracic hypoplasia, Esophageal atresia, Anal atresia, Duodenal atresia, Short neck, Broad ribs, ... OMIM:229850
Simpson-Golabi-Behmel Syndrome
Macroglossia, Pectus excavatum, Scoliosis, Vertebral fusion, Neoplasm, Short neck, Hepatoblastoma... ORPHA:373
Fanconi Anemia, Complementation Group D2
Tracheoesophageal fistula, Esophageal atresia, Prolonged G2 phase of cell cycle, Patent ductus ar... OMIM:227646
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Platyspondyly, Cupped ribs, Scoliosis, Ovoid vertebral bodies ORPHA:85167
Immunodeficiency 31C
Gastrointestinal eosinophilia, Intussusception, Protein-losing enteropathy, Villous atrophy OMIM:614162
Kbg Syndrome
Vertebral fusion, Thoracic kyphosis, Short neck, Vertebral arch anomaly, Rib fusion, Cervical ribs OMIM:148050
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Celiac disease, Rib fusion, Sacral dimple, Large for gestational age ORPHA:544488
Robinow Syndrome, Autosomal Recessive 1
Macroglossia, Rib fusion, Pectus excavatum, Scoliosis, Vertebral fusion, Thoracic hemivertebrae, ... OMIM:268310
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Macroglossia, Thoracic hypoplasia, Pectus excavatum, Coat hanger sign of ribs, Prominent sternum ORPHA:254528
Hereditary Acrokeratotic Poikiloderma
Oral leukoplakia, Abnormality of the gastrointestinal tract, Ankyloglossia, Xerostomia, Abnormal ... ORPHA:2907
Mucopolysaccharidosis Type 3
Macroglossia, Scoliosis, Malabsorption, Dysphagia, Abnormal rib morphology, Abnormal clavicle mor... ORPHA:581
Lenz-Majewski Hyperostotic Dwarfism
Anteriorly placed anus, Broad ribs, Cleft palate, Hemivertebrae, Failure to thrive, Broad clavicl... OMIM:151050
Nestor-Guillermo Progeria Syndrome
Scoliosis, Progressive clavicular acroosteolysis, Rib osteolysis, Thin ribs, Failure to thrive OMIM:614008
Restrictive Dermopathy
Thin ribs, Submucous cleft hard palate, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavic... ORPHA:1662
Schinzel-Giedion Syndrome
Macroglossia, Sacrococcygeal teratoma, High palate, Myeloid leukemia, Anteriorly placed anus, Sco... ORPHA:798
Vater/Vacterl Association
Esophageal atresia, Scoliosis, Anal atresia, Failure to thrive, Abnormal rib morphology, Tracheoe... OMIM:192350
Autosomal Recessive Robinow Syndrome
Pectus excavatum, Scoliosis, Short neck, Ankyloglossia, Sacral dimple, Kyphosis, Pectus carinatum... ORPHA:1507
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Intussusception, Abnormal stomach morphology, Abnormal duodenum morp... ORPHA:512
Myhre Syndrome
Bifid uvula, Submucous cleft hard palate, Cleft palate, Platyspondyly, Abnormal rib morphology ORPHA:2588
Tarp Syndrome
High palate, Cleft palate, Glossoptosis, Tongue nodules, Meckel diverticulum OMIM:311900
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Esophageal atresia, Anal atresia, Duodenal atresia, Cleft p... OMIM:265380
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Macroglossia, Thoracic hypoplasia, Pectus excavatum, Scoliosis, Coat hanger sign of ribs, Short n... ORPHA:96334
Smith-Lemli-Opitz Syndrome
Gastroesophageal reflux, Scoliosis, Pyloric stenosis, Short neck, Kyphosis, Aganglionic megacolon... ORPHA:818
Trisomy 18
Esophageal atresia, Anal atresia, Cleft palate, Abnormal rib morphology, Narrow palate ORPHA:3380
Bloom Syndrome
Neoplasm, Gastroesophageal reflux, Malignant genitourinary tract tumor, Acute lymphoblastic leuke... ORPHA:125
Pallister-Hall Syndrome
Anal atresia, Anteriorly placed anus, Cleft palate, Hemivertebrae, Hypothalamic hamartoma, Microg... OMIM:146510
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Protein-losing enteropathy ORPHA:1655
Heart Defects, Congenital, And Other Congenital Anomalies
Intestinal malrotation, Cervical ribs, Colon perforation, Microcolon OMIM:600001
Premature Aging Syndrome, Penttinen Type
Thin ribs, Scoliosis, Cervical ribs, Failure to thrive OMIM:601812
Spondylometaphyseal Dysplasia, Sedaghatian Type
Horizontal inferior border of scapula, Short neck, Short ribs, Platyspondyly, Narrow chest, 11 pa... OMIM:250220
17Q11 Microdeletion Syndrome
Scoliosis, Glomus jugular tumor, Gastrointestinal stroma tumor, Beaking of vertebral bodies T12-L... ORPHA:97685
Alagille Syndrome 1
Hepatocellular carcinoma, Papillary thyroid carcinoma, Hemivertebrae, Abnormal rib morphology, Fa... OMIM:118450
Ellis-Van Creveld Syndrome
Short ribs, Horizontal ribs, Narrow chest, Pectus carinatum OMIM:225500
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Scoliosis, Gastroesophageal reflux, Anteriorly placed anus, Hypoplastic scapulae, High, narrow pa... ORPHA:95699
X-Linked Hypophosphatemia
Rachitic rosary, Enlargement of the costochondral junction, Beaded ribs, Vertebral hyperostosis, ... ORPHA:89936
Robinow Syndrome
Fused thoracic vertebrae, Scoliosis, Small for gestational age, Ankyloglossia, Missing ribs, Hemi... ORPHA:97360
Femoral-Facial Syndrome
Scoliosis, Gastroesophageal reflux, Absent vertebra, Missing ribs, Cleft palate, Hemivertebrae, S... OMIM:134780
Monosomy 9P
High palate, Scoliosis, Short neck, Abnormality of the vertebral column, Cleft palate, Abnormal r... ORPHA:261112
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Meckel diverticulum, Anteriorly placed anus, Patent du... ORPHA:1708
Carney Complex
Neoplasm of the pharynx, Cutaneous myxoma, Leydig cell neoplasia, Neoplasm of the stomach, Papill... ORPHA:1359
Zttk Syndrome
High palate, Scoliosis, Bifid uvula, Submucous cleft hard palate, Kyphosis, Failure to thrive, He... OMIM:617140
Whim Syndrome
Abnormal small intestine morphology, Parotitis ORPHA:51636
Stuve-Wiedemann Syndrome 1
Scoliosis, Ovoid vertebral bodies, Short neck, Thin ribs, Smooth tongue OMIM:601559
Ear-Patella-Short Stature Syndrome
Bifid uvula, Submucous cleft hard palate, High, narrow palate, Abnormal rib morphology, Cleft pal... ORPHA:2554
Myhre Syndrome
Small for gestational age, Vertebral fusion, Short neck, Broad ribs, Cleft palate, Platyspondyly,... OMIM:139210
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Anal atresia, Lymphoma ORPHA:1572
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine OMIM:200995
Camptodactyly Syndrome, Guadalajara Type 3
Abnormal rib morphology, Spina bifida occulta, Short neck ORPHA:488434
Pseudo-Torch Syndrome 2
Thin ribs OMIM:617397
Tarp Syndrome
Tongue nodules, Glossoptosis, Abnormal duodenum morphology, Cleft palate ORPHA:2886
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Protein-losing enteropathy OMIM:618183
Wolf-Hirschhorn Syndrome
Hemangioma, Small for gestational age, Scoliosis, Vertebral fusion, Sacral dimple, Kyphosis, Clef... OMIM:194190
Eiken Syndrome
Broad ribs, Decreased body weight OMIM:600002
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pyloric stenosis, Long clavicles, Thin ribs, Cleft palate, Failure to thrive, Cleft vertebral arc... ORPHA:83617
1P36 Deletion Syndrome
Gastroesophageal reflux, Abnormal intestine morphology, Scoliosis, Pyloric stenosis, Abnormality ... ORPHA:1606
Musculocontractural Ehlers-Danlos Syndrome
High palate, Malrotation of small bowel, Cleft palate ORPHA:2953
Weill-Marchesani Syndrome 2
High palate, Scoliosis, Lumbar hyperlordosis, Broad ribs, Spinal canal stenosis, Narrow palate OMIM:608328
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Obesity, Broad ribs, Hyperlordosis, Cleft palate OMIM:301066
Alpha-Mannosidosis, Infantile Form
Macroglossia, Pectus excavatum, Short neck, Thickened ribs, Platyspondyly, Pectus carinatum ORPHA:309282
Oculocerebrorenal Syndrome Of Lowe
Gastroesophageal reflux, Scoliosis, Odontogenic neoplasm, Malabsorption, Kyphosis, Benign neoplas... ORPHA:534
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Thoracic dysplasia, Horizontal ribs, Lateral clavicle hook, Short ribs, Narrow chest OMIM:208500
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Horizontal ribs, Short ribs, Short clavicles, Hamartoma, Narrow chest, Aplasia of the epiglottis OMIM:617088
Ulbright-Hodes Syndrome
High palate, Short neck, Short ribs, Thin ribs, Abnormal rib morphology, Short sternum, Ovoid tho... ORPHA:3404
Osteogenesis Imperfecta, Type Vii
Pectus excavatum, Scoliosis, Vertebral compression fracture, Narrow chest, Multiple rib fractures OMIM:610682
Zygomycosis
Hematochezia, Colitis, Gastritis, Gastrointestinal hemorrhage, Melena, Hematemesis, Enterocolitis... ORPHA:73263
Fanconi Anemia
Anal atresia, Aplasia/Hypoplasia of the uvula, High palate, Aganglionic megacolon, Cleft palate, ... ORPHA:84
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Progressive congenital scoliosis, Thin ribs, Platyspondyly, Gastrointestinal hemorrhage, Kyphosco... OMIM:225400
Maternal Uniparental Disomy Of Chromosome 4
Fat malabsorption ORPHA:96180
Fetal Akinesia Deformation Sequence 1
Thoracic hypoplasia, High palate, Small for gestational age, Short neck, Thin ribs, Cleft palate,... OMIM:208150
Fanconi Anemia, Complementation Group E
Prolonged G2 phase of cell cycle OMIM:600901
Autosomal Recessive Polycystic Kidney Disease
Protein-losing enteropathy, Esophageal varix, Hepatoblastoma, Cholangiocarcinoma, Gastrointestina... ORPHA:731
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Congenital pseudoarthrosis of the clavicle, High palate, Short neck, Broad ribs, Broad clavicles,... OMIM:276820
Fanconi Anemia, Complementation Group A
Prolonged G2 phase of cell cycle OMIM:227650
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
High palate, Hiatus hernia, Cleft palate, Intestinal malrotation, Abnormal duodenum morphology OMIM:601776
Fraser Syndrome 1
Abnormality of the anus, Abnormal small intestine morphology, Cleft palate OMIM:219000
Isolated Biliary Atresia
Fat malabsorption, Acholic stools ORPHA:30391
Baller-Gerold Syndrome
Anal atresia, High palate, Scoliosis, Anteriorly placed anus, Bifid uvula, Cleft palate, Midface ... OMIM:218600
Fanconi Anemia, Complementation Group C
Prolonged G2 phase of cell cycle OMIM:227645
Charge Syndrome
Abnormal soft palate morphology, Gastroesophageal reflux, Scoliosis, Cleft palate, Hemivertebrae,... ORPHA:138
Cranioectodermal Dysplasia 2
High palate, Horizontal ribs, Pectus excavatum, Short neck, Short ribs, Cleft palate, Narrow chest OMIM:613610
Craniotubular Dysplasia, Ikegawa Type
Platyspondyly, Broad ribs, Increased intervertebral space OMIM:619727
Cardiospondylocarpofacial Syndrome
Herniation of intervertebral nuclei, Scoliosis, Failure to thrive, Fused cervical vertebrae, Rib ... OMIM:157800
Charge Syndrome
Down-sloping shoulders, Anal atresia, Esophageal atresia, Scoliosis, Duodenal atresia, Cleft pala... OMIM:214800
Abetalipoproteinemia
Steatorrhea, Fat malabsorption ORPHA:14
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
High palate, Pectus excavatum, Short neck, Short clavicles, Undulate ribs OMIM:609945
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Patent ductus arteriosus, Cleft palate OMIM:274000
Townes-Brocks Syndrome
Rectoperineal fistula, Anal atresia, Anteriorly placed anus, Abnormal rib morphology, Rectovagina... ORPHA:857
Shwachman-Diamond Syndrome
Steatorrhea, Abnormality of the gastrointestinal tract, Fat malabsorption ORPHA:811
Mucopolysaccharidosis Type 2, Severe Form
Macroglossia, Spinal canal stenosis, Abnormal vertebral morphology, Thickened ribs ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Macroglossia, Spinal canal stenosis, Abnormal vertebral morphology, Thickened ribs ORPHA:217093
Osteopetrosis With Renal Tubular Acidosis
High palate, Prominent floating ribs, Pectus excavatum, Failure to thrive ORPHA:2785
Trisomy 8P
Malrotation of small bowel, Bifid uvula, Cleft palate ORPHA:264450
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Bifid uvula, Failure to thrive in infancy, Cleft palate, Hemivertebrae, Sub... ORPHA:500150
Chromosome 1P36 Deletion Syndrome, Distal
High palate, Gastroesophageal reflux, Scoliosis, Bifid uvula, Abnormality of the anus, Submucous ... OMIM:607872
Mandibuloacral Dysplasia Progeroid Syndrome
High palate, Thin ribs, Supernumerary ribs, Pectus excavatum OMIM:619127
Pagod Syndrome
Abnormal rib morphology, Abnormal clavicle morphology ORPHA:991
Autosomal Recessive Cutis Laxa Type 1
Small bowel diverticula, Pyloric stenosis ORPHA:90349
Coccidioidomycosis
Abnormality of the vertebral column, Broad ribs ORPHA:228123
Viss Syndrome
Macroglossia, High palate, Gastroesophageal reflux, Broad uvula, Bifid uvula, Duodenitis, High, n... OMIM:619472
Liver Disease, Severe Congenital
Chronic gastritis, Protein-losing enteropathy, Patent ductus arteriosus OMIM:619991
Autosomal Recessive Malignant Osteopetrosis
Abnormal rib morphology, Narrow chest