{"Name":"Multiple synostoses syndrome 2","DiseaseID__c":"GARD:0009916","id":9916,"encodedName":"multiple-synostoses-syndrome-2","IsDeleted":false,"Disease_Name_Full__c":"Multiple synostoses syndrome 2","Xref_IDs__c":"C1832708; C537380; DOID:0081318; MEDGEN:331348; MONDO:0012394; OMIM:610017","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":0,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0012394","Disease_Description__c":"Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene.","GARD_Name__c":"Multiple synostoses syndrome 2","GARD_Synonym__c":"gdf5 multiple synostoses syndrome; multiple synostoses syndrome caused by mutation in gdf5; multiple synostoses syndrome type 2; syns2","Curated_Disease_Description_Source__c":"MEDGEN:C1832708","Curated_Disease_Description__c":"Multiple synostoses syndrome-2 (SYNS2) is an autosomal dominant disorder characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss (summary by Dawson et al., 2006).For a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 (186500).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:610017","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012394","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Multiple synostoses syndrome-2 (SYNS2) is an autosomal dominant disorder characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss (summary by Dawson et al., 2006).For a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 (186500).","Curated_Disease_Description_Source__c":"MEDGEN:C1832708","GARD_Synonym__c":"gdf5 multiple synostoses syndrome; multiple synostoses syndrome caused by mutation in gdf5; multiple synostoses syndrome type 2; syns2","Name":"Multiple synostoses syndrome 2","estimateUsa":""}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1832708"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009916","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/610017","Source__c":"C1832708; MONDO:0012394","Xref__c":"OMIM:610017"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=331348","Source__c":"C1832708","Xref__c":"MEDGEN:331348"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081318","Source__c":"MONDO:0012394","Xref__c":"DOID:0081318"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832708","Source__c":"C1832708","Xref__c":"C1832708"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537380","Source__c":"MONDO:0012394","Xref__c":"C537380"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012394","Source__c":"GARD:0009916","Xref__c":"MONDO:0012394"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GDF5","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:610017","Feature__r":{"HPO_Description__c":"A developmental defect leading to the union of two adjacent vertebrae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002948","HPO_Synonym__c":"Congenital spinal fusion; Congenitally fused vertebrae; Fusion of vertebral bodies; Vertebral body fusion","HPO_Name__c":"Vertebral fusion","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610017","Feature__r":{"HPO_Description__c":"Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000445","HPO_Synonym__c":"Broad nose; Increased breadth of nose; Increased nasal breadth; Increased nasal width; Increased width of nose; Wide nose","HPO_Name__c":"Wide nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610017","Feature__r":{"HPO_Description__c":"Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001156","HPO_Synonym__c":"Brachydactyly syndrome; Short fingers or toes","HPO_Name__c":"Brachydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610017","Feature__r":{"HPO_Description__c":"Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009702","HPO_Synonym__c":"Carpal bone fusion; Carpal fusion; Fused carpal bones; Fusion of carpal bones; Synostosis involving the carpal bones","HPO_Name__c":"Carpal synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610017","Feature__r":{"HPO_Description__c":"Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008368","HPO_Synonym__c":"Fused ankle bones; Synostosis involving tarsal bones; Synostosis of tarsal bones; Tarsal bone fusion; Tarsal bone synostosis; Tarsal fusion; Tarsal fusions","HPO_Name__c":"Tarsal synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610017","Feature__r":{"HPO_Description__c":"An abnormal osseous union (fusion) between the radius and the humerus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003041","HPO_Synonym__c":"Fusion of upper and lower arm bones; Humeral radial synostosis; Humeral-radial synostosis; Radiohumeral synostosis of elbow; Synostosis of radius and humerus","HPO_Name__c":"Humeroradial synostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610017","Feature__r":{"HPO_Description__c":"An abnormal union between bones or parts of bones of the fingers. The synonymous term \\\"symphalangism of the hand\\\" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as \\\"Symphalangism\\\" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as \\\"bony\\\" Syndactyly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009700","HPO_Synonym__c":"Fused finger bones; Symphalangism of the hand; Synostosis involving bones of the fingers","HPO_Name__c":"Finger symphalangism","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610017","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100264","HPO_Synonym__c":"Cushing's symphalangism","HPO_Name__c":"Proximal symphalangism","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610017","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001762","HPO_Synonym__c":"Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus","HPO_Name__c":"Talipes equinovarus","HPO_Feature_Type__c":"Symptom"}}],"tags":{},"synonyms":["gdf5 multiple synostoses syndrome"," multiple synostoses syndrome caused by mutation in gdf5"," multiple synostoses syndrome type 2"," syns2"]}