{"Name":"Tetramelic monodactyly","DiseaseID__c":"GARD:0003707","id":3707,"encodedName":"tetramelic-monodactyly","IsDeleted":false,"Disease_Name_Full__c":"Tetramelic monodactyly","Xref_IDs__c":"770945001; C1861233; C566066; MEDGEN:349989; MONDO:0008544; OMIM:187510; ORPHA:2564","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008544","Disease_Description__c":"Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.","GARD_Name__c":"Tetramelic monodactyly","GARD_Synonym__c":"sommer hines syndrome; sommer-hines syndrome; tetramelic monodactyly with autosomal dominant inheritance","Curated_Disease_Description_Source__c":"MONDO:0008544","Curated_Disease_Description__c":"Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy","SourceID__c":"ORPHA:2564","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008544","ORPHANET_ID__c":"ORPHA:2564","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Monodactilia tetramélica","Spanish_Description_Source__c":"ORPHA:2564","Spanish_Description__c":"Es un trastorno malformativo de las extremidades, congénito, genético y poco frecuente, caracterizado por la presencia de un sólo dedo en las cuatro extremidades. La malformación suele ser aislada, aunque se han descrito defectos aplásicos e hipoplásicos en las estructuras esqueléticas restantes de manos y pies. No se han descrito nuevos casos en la literatura desde 1992.","Spanish_Disease_Name__c":"monodactilia tetramélica","Spanish_GARD_Synonym__c":"síndrome de sommer-hines","Category_Linearization__c":"ORPHA:93890","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":"Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.","Curated_Disease_Description_Source__c":"MONDO:0008544","GARD_Synonym__c":"sommer hines syndrome; sommer-hines syndrome; tetramelic monodactyly with autosomal dominant inheritance","Name":"Tetramelic monodactyly","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2564"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1861233","Source__c":"C1861233","Xref__c":"C1861233"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566066","Source__c":"MONDO:0008544","Xref__c":"C566066"},{"URL__c":"https://www.orpha.net/en/disease/detail/2564","Source__c":"C1861233; MONDO:0008544; ORPHA:2564","Xref__c":"ORPHA:2564"},{"URL__c":"https://www.omim.org/entry/187510","Source__c":"C1861233; MONDO:0008544; ORPHA:2564","Xref__c":"OMIM:187510"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=349989","Source__c":"C1861233","Xref__c":"MEDGEN:349989"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008544","Source__c":"GARD:0003707","Xref__c":"MONDO:0008544"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770945001","Source__c":"C1861233","Xref__c":"770945001"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2564","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001171","HPO_Synonym__c":"Ectrodactyly of the hand; Hand ectrodactyly; Split hand; Split-hand","HPO_Name__c":"Split hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2564","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental defect resulting in the presence of fewer than the normal number of digits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012165","HPO_Name__c":"Oligodactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["sommer hines syndrome"," sommer-hines syndrome"," tetramelic monodactyly with autosomal dominant inheritance"]}