{"orpha":633228,"name":"Isolated proximal femoral focal deficiency","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["CPFD","Isolated congenital proximal femoral deficiency","PFFD"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-633228/","orphanet_url":"https://www.orpha.net/en/disease/detail/633228","names":{"fr":{"name":"Déficience fémorale focale proximale isolée","synonyms":["Déficience fémorale congénitale isolée"]},"de":{"name":"Isolierter proximaler fokaler Femurdefekt","synonyms":["PFFD","CPFD","Isolierter angeborener proximaler Oberschenkeldefekt"]},"es":{"name":"Deficiencia femoral focal proximal aislada","synonyms":["CPFD","Deficiencia femoral proximal congénita aislada","PFFD"]},"it":{"name":"Deficit focale della porzione prossimale del femore","synonyms":["CPFD","Deficit congenito della porzione prossimale del femore","PFFD"]},"nl":{"name":"Geïsoleerde proximale femorale focale deficiëntie","synonyms":["CPFD","Geïsoleerde congenitale proximale femorale deficiëntie","PFFD"]},"pt":{"name":"Deficiência femoral proximal focal isolada","synonyms":["CPFD","Deficiência femoral proximal isolada congénita","PFFD"]},"pl":{"name":"Izolowane ogniskowe skrócenie bliższego odcinka kości udowej","synonyms":["CPFD","Isolated congenital proximal femoral deficiency","PFFD"]},"cs":{"name":"Proximální fokální femorální deficience","synonyms":["CPFD","Isolated congenital proximal femoral deficiency","PFFD"]},"uk":{"name":"Ізольований фокальний дефект проксимального відділу стегнової кістки","synonyms":["CPFD","Ізольований вроджений дефект проксимального відділу стегнової кістки","PFFD"]}},"xrefs":[{"source":"ICD-10","code":"Q74.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0859006","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0431996","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":294927,"name":"Non-syndromic intercalary limb defects","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.55,"area":"Worldwide","status":"Validated","source":"32019581[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.55,"area":"Worldwide","status":"Validated","source":"32019581[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-11","source":"39070373[PMID]_23984135[PMID]_23915863[PMID]_30787784[PMID]","terms":[{"hpo":"HP:0009108","label":"Aplasia/Hypoplasia involving the femoral head and neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005613","label":"Aplasia/hypoplasia of the femur","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011428","label":"Short fetal femur length","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010501","label":"Limitation of knee mobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008800","label":"Limited hip movement","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009800","label":"Maternal diabetes","frequency":"Excluded (0%)","criteria":null}]}}