{"orpha":1988,"name":"Femoral-facial syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["FFS","FHUFS","Femoral hypoplasia-unusual facies syndrome"],"definition":"A rare syndrome with limb reduction defects characterized by femoral agenesis/hypoplasia (bilateral or unilateral) and recognizable facies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1988/","orphanet_url":"https://www.orpha.net/en/disease/detail/1988","names":{"fr":{"name":"Syndrome fémoro-facial","synonyms":["FFS","FHUFS","Syndrome d'hypoplasie du fémur-faciès particulier"],"definition":"Syndrome rare avec anomalies réductionnelles des membres caractérisé par une agénésie/hypoplasie fémorale (bilatérale ou unilatérale) et un faciès caractéristique."},"de":{"name":"Femoral-faziales Syndrom","synonyms":["FFS","FHUFS","Femurhypoplasie - Gesichtsdysmorphie"],"definition":"Ein seltenes Syndrom mit Gliedmaßen-Reduktionsdefekten, das durch Femoral-Agenesie/Hypoplasie (bilateral oder unilateral) und charakteristische Gesichtszüge gekennzeichnet ist."},"es":{"name":"Síndrome femoral-facial","synonyms":["FHUFS","SFF","Síndrome hipoplasia femoral- facies inusual"],"definition":"Es un síndrome poco frecuente de defectos por reducción de las extremidades caracterizado por agenesia/hipoplasia femoral (uni- o bilateral) y rasgos faciales característicos."},"it":{"name":"Sindrome femoro-facciale","synonyms":["FFS","FHUFS","Sindrome ipoplasia femorale-facies caratteristica"]},"nl":{"name":"Femoraal-faciaal syndroom","synonyms":["FFS","FHUFS","Femorale hypoplasie - afwijkend aangezicht-syndroom"],"definition":"Een zeldzaam syndroom met reductiedefecten van ledematen, gekenmerkt door agenesie/hypoplasie van femur (bilateraal of unilateraal) en een herkenbaar aangezicht."},"pt":{"name":"Síndrome facio-femural"},"pl":{"name":"Zespół udowo-twarzowy","synonyms":["FFS","FHUFS","Zespół hipoplazja kości udowej - niezwykły wygląd twarzy"]},"cs":{"name":"Femorofaciální syndrom","synonyms":["FFS","FHUFS","Syndrom zahrnující femorální hypoplázii a neobvyklý obličej"]},"uk":{"name":"Стегново-лицевий синдром","synonyms":["Синдром гіпоплазії стегнової кістки - незвичайного обличчя","FFS","FHUFS"],"definition":"Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies."},"zh":{"name":"股-面综合征","synonyms":["股骨发育不良-特殊面容综合征"]},"tr":{"name":"Femoral-yüz sendromu","synonyms":["FFS","FHUFS","Femoral hipoplazi-alışılmadık yüz sendromu"]}},"xrefs":[{"source":"OMIM","code":"134780","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"505576809"},{"source":"MONDO","code":"0007604","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537916","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265263","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"61","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10083944","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":404574,"name":"Genetic syndrome with limb reduction defects","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]},{"orpha":294955,"name":"Syndrome with limb reduction defects","classifications":[147,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":68.0,"area":"Worldwide","status":"Validated","source":"30070764[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25210574[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003097","label":"Short femur","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002991","label":"Abnormal fibula morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005107","label":"Abnormal sacrum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002644","label":"Abnormality of pelvic girdle bone morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005772","label":"Aplasia/Hypoplasia of the tibia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009800","label":"Maternal diabetes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008551","label":"Microtia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001841","label":"Preaxial foot polydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100542","label":"Abnormal localization of kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000040","label":"Long penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000113","label":"Polycystic kidney dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000902","label":"Rib fusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000912","label":"Sprengel anomaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null}]}}