{"Name":"Otospondylomegaepiphyseal dysplasia, autosomal dominant","DiseaseID__c":"GARD:0005021","id":5021,"encodedName":"otospondylomegaepiphyseal-dysplasia-autosomal-dominant","IsDeleted":false,"Disease_Name_Full__c":"Otospondylomegaepiphyseal dysplasia, autosomal dominant","Xref_IDs__c":"699313003; C1848488; C535776; C537494; DOID:0080677; DOID:4258; MEDGEN:341234; MONDO:0008490; OMIM:184840; ORPHA:166100","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0008490","Disease_Description__c":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.","GARD_Name__c":"Otospondylomegaepiphyseal dysplasia, autosomal dominant","GARD_Synonym__c":"ad osmed; autosomal dominant otospondylomegaepiphyseal dysplasia; col11a2 stickler syndrome; col11a2-related stickler syndrome; heterozygous osmed; heterozygous otospondylomegaepiphyseal dysplasia; osmed, heterozygous; osmeda; piere-robin syndrome; pierre robin malformation; pierre robin sequence-fetal chondrodysplasia syndrome; pierre robin syndrome with fetal chondrodysplasia; pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type; pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type, formerly; pierre robin syndrome with foetal chondrodysplasia; pierre robin syndrome with foetal chondrodysplasia stickler syndrome, nonocular type; pierre robin syndrome with foetal chondrodysplasia stickler syndrome, nonocular type, formerly; pierre robin syndrome-fetal chondrodysplasia syndrome; stickler syndrome caused by mutation in col11a2; stickler syndrome type 3; stickler syndrome, non-ocular type; stickler syndrome, type 3; stickler syndrome, type iii; stickler syndrome, type iii, formerly; stl3; weissenbacher-zweymuller syndrome; wzs","Curated_Disease_Description_Source__c":"MONDO:0008490","Curated_Disease_Description__c":"Weissenbacher-Zweymüller syndrome is a condition that affects bone growth. It is characterized by skeletal abnormalities, hearing loss, and distinctive facial features. The features of this condition significantly overlap those of two similar conditions, otospondylomegaepiphyseal dysplasia (OSMED) and Stickler syndrome type III. All of these conditions are caused by mutations in the same gene, and in some cases, it can be difficult to tell them apart. Some researchers believe they represent a single disorder with a range of signs and symptoms. Infants born with Weissenbacher-Zweymüller syndrome are smaller than average because the bones in their arms and legs are unusually short. The thigh and upper arm bones are wider than usual at the ends (described as dumbbell-shaped), and the bones of the spine (vertebrae) may also be abnormally shaped. High-frequency hearing loss occurs in some cases. Distinctive facial features include wide-set protruding eyes, a small and upturned nose with a flat bridge, and a small lower jaw. Some affected infants are born with an opening in the roof of the mouth (a cleft palate). Most people with Weissenbacher-Zweymüller syndrome experience significant 'catch-up' growth in the bones of the arms and legs during childhood. As a result, adults with this condition are not unusually short. However, affected adults still have other signs and symptoms of Weissenbacher-Zweymüller syndrome, including distinctive facial features and hearing loss.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:166100","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008490","ORPHANET_ID__c":"ORPHA:166100","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia oto-espondilo-megaepifisaria autosómica dominante","Spanish_Description_Source__c":"ORPHA:166100","Spanish_Description__c":"Es un trastorno esquelético caracterizado clínicamente por fracturas múltiples, huesos wormianos en cráneo, dentinogénesis imperfecta y dismorfia facial (hipertelorismo, párpados llenos). Aunque los signos son muy similares a los que presenta la osteogénesis imperfecta, la presencia de defectos corticales característicos en ausencia de osteopenia y de alteraciones del colágeno son característicos de este trastorno. No se han descrito más casos en la literatura desde 1999.","Spanish_Disease_Name__c":"displasia oto-espondilo-megaepifisaria autosómica dominante","Spanish_GARD_Synonym__c":"osmed autosómica dominante; síndrome de stickler tipo 3; síndrome de stickler tipo no ocular","Category_Linearization__c":"ORPHA:93419","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Weissenbacher-Zweymüller syndrome is a condition that affects bone growth. It is characterized by skeletal abnormalities, hearing loss, and distinctive facial features. The features of this condition significantly overlap those of two similar conditions, otospondylomegaepiphyseal dysplasia (OSMED) and Stickler syndrome type III. All of these conditions are caused by mutations in the same gene, and in some cases, it can be difficult to tell them apart. Some researchers believe they represent a single disorder with a range of signs and symptoms. Infants born with Weissenbacher-Zweymüller syndrome are smaller than average because the bones in their arms and legs are unusually short. The thigh and upper arm bones are wider than usual at the ends (described as dumbbell-shaped), and the bones of the spine (vertebrae) may also be abnormally shaped. High-frequency hearing loss occurs in some cases. Distinctive facial features include wide-set protruding eyes, a small and upturned nose with a flat bridge, and a small lower jaw. Some affected infants are born with an opening in the roof of the mouth (a cleft palate). Most people with Weissenbacher-Zweymüller syndrome experience significant 'catch-up' growth in the bones of the arms and legs during childhood. As a result, adults with this condition are not unusually short. However, affected adults still have other signs and symptoms of Weissenbacher-Zweymüller syndrome, including distinctive facial features and hearing loss.","Curated_Disease_Description_Source__c":"MONDO:0008490","GARD_Synonym__c":"ad osmed; autosomal dominant otospondylomegaepiphyseal dysplasia; col11a2 stickler syndrome; col11a2-related stickler syndrome; heterozygous osmed; heterozygous otospondylomegaepiphyseal dysplasia; osmed, heterozygous; osmeda; piere-robin syndrome; pierre robin malformation; pierre robin sequence-fetal chondrodysplasia syndrome; pierre robin syndrome with fetal chondrodysplasia; pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type; pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type, formerly; pierre robin syndrome with foetal chondrodysplasia; pierre robin syndrome with foetal chondrodysplasia stickler syndrome, nonocular type; pierre robin syndrome with foetal chondrodysplasia stickler syndrome, nonocular type, formerly; pierre robin syndrome-fetal chondrodysplasia syndrome; stickler syndrome caused by mutation in col11a2; stickler syndrome type 3; stickler syndrome, non-ocular type; stickler syndrome, type 3; stickler syndrome, type iii; stickler syndrome, type iii, formerly; stl3; weissenbacher-zweymuller syndrome; wzs","Name":"Otospondylomegaepiphyseal dysplasia, autosomal dominant","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"The Marfan Foundation","Website__c":"https://www.marfan.org/home"},{"Account_Name__c":"Stickler Involved People","Website__c":"http://www.sticklers.org"},{"Account_Name__c":"American Cleft Palate Craniofacial Association","Website__c":"https://acpacares.org/"},{"Account_Name__c":"Coalition for Heritable Disorders of Connective Tissue","Website__c":"https://www.connectivetissuecoalition.org/"},{"Account_Name__c":"Stickler Syndrome Support Group","Website__c":"https://stickler.org.uk/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Craniofacial Anomalies","Tag_Category__c":"Account","curated_tag_name":"Craniofacial anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:166100"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:166100"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1302","Source__c":"Gene Review","Xref__c":"NBK1302"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535776","Source__c":"MONDO:0008490","Xref__c":"C535776"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1848488","Source__c":"C1848488","Xref__c":"C1848488"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537494","Source__c":"MONDO:0008490","Xref__c":"C537494"},{"URL__c":"https://www.orpha.net/en/disease/detail/166100","Source__c":"C1848488; MONDO:0008490","Xref__c":"ORPHA:166100"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341234","Source__c":"C1848488","Xref__c":"MEDGEN:341234"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080677","Source__c":"MONDO:0008490","Xref__c":"DOID:0080677"},{"URL__c":"https://www.omim.org/entry/184840","Source__c":"C1848488; MONDO:0008490; ORPHA:166100","Xref__c":"OMIM:184840"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=699313003","Source__c":"MONDO:0008490","Xref__c":"699313003"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4258","Source__c":"MONDO:0008490","Xref__c":"DOID:4258"},{"URL__c":"https://medlineplus.gov/genetics/condition/weissenbacher-zweymuller-syndrome","Source__c":"GARD:0005021","Xref__c":"https://medlineplus.gov/genetics/condition/weissenbacher-zweymuller-syndrome"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008490","Source__c":"GARD:0005021","Xref__c":"MONDO:0008490"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COL11A2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/col11a2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:166100","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000343","HPO_Synonym__c":"Elongated philtrum; Increased height of philtrum; Increased length of philtrum; Increased vertical dimension of philtrum; Vertical hyperplasia of philtrum","HPO_Name__c":"Long philtrum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166100","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166100","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002758","HPO_Synonym__c":"Degenerative joint disease","HPO_Name__c":"Osteoarthritis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166100","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A defect of the chest wall characterized by a depression of the sternum, giving the chest (\\\"pectus\\\") a caved-in (\\\"excavatum\\\") appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000767","HPO_Synonym__c":"Funnel chest","HPO_Name__c":"Pectus excavatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166100","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000162","HPO_Synonym__c":"Lingual retraction; Retraction of the tongue","HPO_Name__c":"Glossoptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166100","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormal shape or structure of the metacarpal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005916","HPO_Synonym__c":"Abnormal shape of long bones of hand; Abnormal shape of metacarpal bones","HPO_Name__c":"Abnormal metacarpal morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166100","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint pain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002829","HPO_Synonym__c":"Arthralgias; Joint pain","HPO_Name__c":"Arthralgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166100","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000175","HPO_Synonym__c":"Cleft hard and soft palate; Cleft of hard and soft palate; Cleft of palate; Cleft palate; Cleft roof of mouth; Palatoschisis; Uranostaphyloschisis","HPO_Name__c":"Cleft palate","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166100","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000768","HPO_Synonym__c":"Pigeon chest","HPO_Name__c":"Pectus carinatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166100","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000272","HPO_Synonym__c":"Decreased size of malar bone; Depressed malar region; Flat cheekbone; Malar hypoplasia; Underdevelopment of malar bone; Zygomatic flattening","HPO_Name__c":"Malar flattening","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166100","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100777","HPO_Synonym__c":"Formation of new noncancerous bone on top of existing bone","HPO_Name__c":"Exostoses","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:166100","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Otolaryngology","Pediatrics"],"Account":["Craniofacial Anomalies"]},"synonyms":["ad osmed"," autosomal dominant otospondylomegaepiphyseal dysplasia"," col11a2 stickler syndrome"," col11a2-related stickler syndrome"," heterozygous osmed"," heterozygous otospondylomegaepiphyseal dysplasia"," osmed, heterozygous"," osmeda"," piere-robin syndrome"," pierre robin malformation"," pierre robin sequence-fetal chondrodysplasia syndrome"," pierre robin syndrome with fetal chondrodysplasia"," pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type"," pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type, formerly"," pierre robin syndrome with foetal chondrodysplasia"," pierre robin syndrome with foetal chondrodysplasia stickler syndrome, nonocular type"," pierre robin syndrome with foetal chondrodysplasia stickler syndrome, nonocular type, formerly"," pierre robin syndrome-fetal chondrodysplasia syndrome"," stickler syndrome caused by mutation in col11a2"," stickler syndrome type 3"," stickler syndrome, non-ocular type"," stickler syndrome, type 3"," stickler syndrome, type iii"," stickler syndrome, type iii, formerly"," stl3"," weissenbacher-zweymuller syndrome"," wzs"]}