{"orpha":85201,"name":"Genitopatellar syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome"],"definition":"A rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-85201/","orphanet_url":"https://www.orpha.net/en/disease/detail/85201","names":{"fr":{"name":"Syndrome génito-patellaire","synonyms":["Syndrome de rotule absente-hypoplasie scrotale-anomalies rénales-dysmorphie faciale-déficience intellectuelle"],"definition":"Syndrome rare d'anomalies congénitales de la rotule caractérisé par une aplasie ou une hypoplasie de la rotule associée à une microcéphalie, des traits faciaux grossiers caractéristiques (microcéphalie, rétrécissement bitemporal, nez large et un pont nasal haut, joues proéminentes et micro/rétrognathie ou prognathisme), une arthrogrypose des hanches et des genoux, des anomalies urogénitales et une déficience intellectuelle."},"de":{"name":"Genito-patellares Syndrom","synonyms":["Patellaaplasie-Skrotumhypoplasie-Nierenanomalien-Geischtsdysmorphien-Intelligenzminderung-Syndrom"],"definition":"Ein seltenes kongenitales Syndrom mit Patellanomalie, das durch eine Patella-Aplasie oder -Hypoplasie in Verbindung mit Mikrozephalie, charakteristischen groben Gesichtszügen (Mikrozephalie, Bitemporalverengung, große, breite Nase mit hohem Nasenrücken, vorstehende Wangen und Mikro/Retrognathie oder Progenie), Arthrogrypose der Hüften und Knie, urogenitale Anomalien und intellektuelle Defizite gekennzeichnet ist."},"es":{"name":"Síndrome genitopatelar","synonyms":["Síndrome de ausencia de rótula-hipoplasia escrotal-anomalías renales-dismorfia facial-discapacidad intelectual"],"definition":"Es un síndrome de anomalías patelares congénito y poco frecuente caracterizado por aplasia o hipoplasia patelar asociada a microcefalia, rasgos faciales toscos característicos (microcefalia, estrechamiento bitemporal, nariz grande y ancha con puente nasal alto, mejillas prominentes y micro / retrognatia o prognatismo), artrogriposis de caderas y rodillas, anomalías urogenitales y discapacidad intelectual."},"it":{"name":"Sindrome genitorotulea","synonyms":["Sindrome rotule assenti- ipoplasia scrotale-anomalie renali-dismorfismi facciali- disabilità intellettiva"],"definition":"La sindrome genito-rotulea è un'anomalia congenita rara della rotula, caratterizzata da aplasia o ipoplasia della rotula, associata a microcefalia, tratti del viso grossolani caratteristici (microcefalia, restringimento bitemporale, naso largo con radice prominente, guance prominenti e micro/retrognazia o prognatismo), artrogriposi delle anche e delle ginocchia, anomalie urogenitali e deficit intellettivo."},"nl":{"name":"Genitopatellair syndroom","synonyms":["Afwezige patellae - hypoplasie van scrotum - nieranomalieën - faciale dysmorfie - intellectuele achterstand-syndroom"],"definition":"Genito-patellair syndroom is een zeldzaam, congenitaal syndroom met een patellaire anomalie, en wordt gekarakteriseerd door aplasie of hypoplasie van de knieschijf, geassocieerd met microcefalie, typische ruwe gelaatskenmerken (microcefalie, bitemporale vernauwing, grote en brede neus met hoge neusbrug, uitgesproken wangen, en micro-/retrognathie of prognathie), artrogrypose van de heupen en knieën, urogenitale afwijkingen en intellectuele beperking."},"pt":{"name":"Síndrome genitorrotuliano","synonyms":["Síndrome de rótulas ausentes-hipoplasia escrotal-anomalias renais-dismorfia facial-perturbação do desenvolvimento intelectual"]},"pl":{"name":"Zespół płciowo-rzepkowy","synonyms":["Brak rzepki - hipoplazja moszny - wady nerek - dysmorfia twarzy - niepełnosprawność intelektualna"]},"cs":{"name":"Genitopatelární syndrom","synonyms":["Syndrom zahrnující absenci patel, skrotální hypoplázii, renální anomálie, faciální dysmorfismus a mentální retardaci"]},"uk":{"name":"Генітопателлярний синдром","synonyms":["Синдром відсутності колінних чашечок - гіпоплазії мошонки - аномалії нирок - дизморфізму обличчя - інтелектуальної недостатності"],"definition":"A rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency."},"zh":{"name":"生殖器-髌骨综合征","synonyms":["髌骨缺如-阴囊发育不全-肾畸形-面部畸形-智力障碍综合征"]},"tr":{"name":"Genitopatellar sendrom","synonyms":["Patella yokluğu-skrotal hipoplazi-böbrek anomalileri-fasiyal dismorfizm-zihinsel yetersizlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"606170","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":"376039493"},{"source":"MONDO","code":"0011640","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C565255","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1853566","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10994","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":597749,"name":"KAT6B-related multiple congenital anomalies syndrome","classifications":[147,156,181,185,199]}],"children":[],"genes":[{"symbol":"KAT6B","name":"lysine acetyltransferase 6B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23236640[PMID]_22265017[PMID]_22265014[PMID]","hgnc":"17582","ensembl":"ENSG00000156650","omim":"605880","loci":["10q22.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"area":"Worldwide","status":"Validated","source":"22265014[PMID]_22265017[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22265014[PMID]_22265017[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"10882755[PMID]","terms":[{"hpo":"HP:0002804","label":"Arthrogryposis multiplex congenita","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008665","label":"Clitoral hypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003273","label":"Hip contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000946","label":"Hypoplastic ilia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003175","label":"Hypoplastic ischia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006380","label":"Knee flexion contracture","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006443","label":"Patellar aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000046","label":"Small scrotum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000684","label":"Delayed eruption of teeth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","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:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002974","label":"Radioulnar synostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null}]}}