{"Name":"Postaxial tetramelic oligodactyly","DiseaseID__c":"GARD:0004065","id":4065,"encodedName":"postaxial-tetramelic-oligodactyly","IsDeleted":false,"Disease_Name_Full__c":"Postaxial tetramelic oligodactyly","Xref_IDs__c":"770946000; C1867924; C566767; MEDGEN:357380; MONDO:0008298; OMIM:176240; ORPHA:2730","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:0008298","Disease_Description__c":"Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.","GARD_Name__c":"Postaxial tetramelic oligodactyly","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MEDGEN:C1867924","Curated_Disease_Description__c":"A rare genetic congenital limb malformation disorder with characteristics of isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:2730","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008298","ORPHANET_ID__c":"ORPHA:2730","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Oligodactilia postaxial tetramélica","Spanish_Description_Source__c":"ORPHA:2730","Spanish_Description__c":"Es un trastorno genético y poco frecuente por malformación congénita de las extremidades caracterizada por oligodactilia postaxial aislada en las cuatro extremidades. Los afectados presentan un patrón consistente de malformaciones que varía desde la ausencia completa de los 5º metacarpianos, metatarsianos y falanges hasta la ausencia completa de los 5º metacarpianos y metatarsianos, con alguna 5ª falange distal residual. No se han descrito más casos en la literatura desde 1993.","Spanish_Disease_Name__c":"oligodactilia postaxial tetramélica","Spanish_GARD_Synonym__c":null,"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":"A rare genetic congenital limb malformation disorder with characteristics of isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.","Curated_Disease_Description_Source__c":"MEDGEN:C1867924","Name":"Postaxial tetramelic oligodactyly","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":"Neonatal","Provided_By__c":"ORPHA:2730"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/176240","Source__c":"C1867924; MONDO:0008298; ORPHA:2730","Xref__c":"OMIM:176240"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1867924","Source__c":"C1867924","Xref__c":"C1867924"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566767","Source__c":"MONDO:0008298","Xref__c":"C566767"},{"URL__c":"https://www.orpha.net/en/disease/detail/2730","Source__c":"C1867924; MONDO:0008298; ORPHA:2730","Xref__c":"ORPHA:2730"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=357380","Source__c":"C1867924","Xref__c":"MEDGEN:357380"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008298","Source__c":"GARD:0004065","Xref__c":"MONDO:0008298"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770946000","Source__c":"C1867924","Xref__c":"770946000"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2730","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of a finger.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001167","HPO_Synonym__c":"Abnormalities of the fingers; Abnormality of finger","HPO_Name__c":"Abnormal finger morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2730","HPO_Frequency__c":"Very frequent (80-99%)","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:2730","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"}},{"Provided_By__c":"ORPHA:2730","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100257","HPO_Synonym__c":"Cleft hand; Lobster claw hand","HPO_Name__c":"Ectrodactyly","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":[""]}