{"Name":"Madelung deformity","DiseaseID__c":"GARD:0012973","id":12973,"encodedName":"madelung-deformity","IsDeleted":false,"Disease_Name_Full__c":"Madelung deformity","Xref_IDs__c":"4530000; C0152441; C562398; HP:0003067; MEDGEN:57537; MONDO:0018154","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":2,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0018154","Disease_Description__c":"Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow.","GARD_Name__c":"Madelung deformity","GARD_Synonym__c":"carpus curvus; madelung wrist deformity; madelung's deformity","Curated_Disease_Description_Source__c":"GARD:0012973","Curated_Disease_Description__c":"Madelung deformity (MD) is a rare congenital (present from birth) condition in which the wrist grows abnormally and part of the radius, one of the bones of the forearms, stops growing early and is short and bowed. The other forearm bone, the ulna, keeps growing and can dislocate, forming a bump. It is more commonly observed in females. Symptoms include a decreased range of motion in the wrist, pain, and a visible difference in the appearance of the wrist. In addition to the abnormal growth, there is also an abnormal palmar (Vickers' ligament) that is thought to contribute to the deformity. MD seems to be caused by a combination of both genetic and acquired factors (such as following a trauma or overuse of the joint). MD can also occur as part of another conditions. Leri Weill dyschondrosteosis, characterized by bilateral Madelung deformity and short stature with short arms and legs, is caused by genetic changes or losses of genetic material involving the SHOX gene. Some cases of isolated MD may be caused by alterations in the SHOX gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":null,"Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018154","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":"Madelung deformity (MD) is a rare congenital (present from birth) condition in which the wrist grows abnormally and part of the radius, one of the bones of the forearms, stops growing early and is short and bowed. The other forearm bone, the ulna, keeps growing and can dislocate, forming a bump. It is more commonly observed in females. Symptoms include a decreased range of motion in the wrist, pain, and a visible difference in the appearance of the wrist. In addition to the abnormal growth, there is also an abnormal palmar (Vickers' ligament) that is thought to contribute to the deformity. MD seems to be caused by a combination of both genetic and acquired factors (such as following a trauma or overuse of the joint). MD can also occur as part of another conditions. Leri Weill dyschondrosteosis, characterized by bilateral Madelung deformity and short stature with short arms and legs, is caused by genetic changes or losses of genetic material involving the SHOX gene. Some cases of isolated MD may be caused by alterations in the SHOX gene.","Curated_Disease_Description_Source__c":"GARD:0012973","GARD_Synonym__c":"carpus curvus; madelung wrist deformity; madelung's deformity","Name":"Madelung deformity","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Little People of America","Website__c":"https://www.lpaonline.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0152441"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=57537","Source__c":"C0152441","Xref__c":"MEDGEN:57537"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0152441","Source__c":"C0152441","Xref__c":"C0152441"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562398","Source__c":"MONDO:0018154","Xref__c":"C562398"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=4530000","Source__c":"C0152441; MONDO:0018154","Xref__c":"4530000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018154","Source__c":"GARD:0012973","Xref__c":"MONDO:0018154"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0003067","Source__c":"C0152441","Xref__c":"HP:0003067"}],"tags":{},"synonyms":["carpus curvus"," madelung wrist deformity"," madelung's deformity"],"spanishId":13367,"spanishName":"deformidad-de-madelung"}