{"orpha":2412,"name":"Dislocation of the hip-dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Collins-Pope syndrome"],"definition":"Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2412/","orphanet_url":"https://www.orpha.net/en/disease/detail/2412","names":{"fr":{"name":"Syndrome de luxation de la hanche-dysmorphie","synonyms":["Syndrome de Collins-Pope"],"definition":"Un syndrome rare d'anomalies congénitales multiples caractérisé par une luxation congénitale bilatérale de la hanche, une dysmorphie faciale (étage moyen du visage plat, hypertélorisme, épicanthus, boursouflures autour des yeux, pont nasal large, bouche en forme de carpe), et une hyperlaxité articulaire. Des troubles cardiaques congénitaux, une dislocation congénitale du genou, une hernie inguinale et un reflux vésico-urétéral ont aussi été rapportés. Il n'y a pas eu de description ultérieure du syndrome dans la littérature depuis 1995."},"de":{"name":"Hüftdislokation-Dysmorphie-Syndrom","synonyms":["Collins-Pope-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen angeborenen Anomalien, das durch eine beidseitige angeborene Hüftluxation, charakteristische Gesichtszüge (flaches Mittelgesicht, Hypertelorismus, Epikanthus, Schwellungen um die Augen, breiter Nasenrücken, karpfenförmiger Mund) und eine Überstreckbarkeit der Gelenke gekennzeichnet ist. Angeborene Herzfehler, angeborene Knieluxation, angeborene Leistenhernie und vesikoureterischer Reflux sind ebenfalls beschrieben worden. Seit 1995 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de luxación de cadera-dismorfia","synonyms":["Síndrome de Collins-Pope"],"definition":"El síndrome de luxación de cadera-dismorfia, es un síndrome malformativo poco frecuente, caracterizado por luxación congénita bilateral de cadera, rasgos faciales característicos (aplanamiento medio facial, hipertelorismo, epicanto, hinchazón periocular, puente nasal ancho, boca en forma de carpa) e hiperlaxitud articular. También se han notificado defectos cardíacos congénitos, luxación congénita de la rodilla, hernia inguinal congénita y reflujo vesicoureteral. No ha habido más descripciones en la literatura desde 1995."},"it":{"name":"Lussazione dell'anca - dismorfismi","synonyms":["Sindrome di Collins-Pope"],"definition":"La sindrome che associa la lussazione dell'anca e i dismorfismi è una malattia rara da anomalie congenite multiple, caratterizzata da lussazione congenita bilaterale dell'anca, dismorfismi facciali caratteristici (appiattimento della porzione mediana del volto, ipertelorismo, epicanto, gonfiore attorno agli occhi, sella nasale larga, bocca ''da carpa'') e iperestensibilità articolare. Inoltre, sono stati descritti pazienti con cardiopatie, lussazione congenita del ginocchio, ernia inguinale congenita e reflusso vescico-ureterale. Non sono stati descritti nuovi casi dopo il 1995."},"nl":{"name":"Heupluxatie - dysmorfie-syndroom","synonyms":["Syndroom van Collins-Pope"],"definition":"Ontwrichting van de heup - dysmorfie-syndroom is een zeldzaam syndroom met meervoudige congenitale anomalieën, dat gekarakteriseerd wordt door bilaterale congenitale dislocatie van de heup, typische gezichtskenmerken (plat middengezicht, hypertelorisme, epicanthus (amandelogen), zwelling rond de ogen, brede neusbrug, karpermond), en hypermobiliteit van de gewrichten. Congenitale hartdefecten, congenitale dislocatie van de knie, congenitale liesbreuk, en vesico-ureterale reflux werden ook reeds gerapporteerd. Sinds 1995 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de luxação da anca-dismorfia","synonyms":["Síndrome Collins-Pope"]},"pl":{"name":"Zwichnięcie stawu biodrowego - dysmorfizm","synonyms":["Zespół Collinsa i Pope"]},"cs":{"name":"Syndrom zahrnující dislokaci kyčelního kloubu a dysmorfismus","synonyms":["Collinsové-Popeho syndrom","Collins-Popeho syndrom"]},"uk":{"name":"Синдром вивиху тазостегнового суглоба- дисморфізму","synonyms":["Синдром Коллінза-Поупа"],"definition":"Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995."},"zh":{"name":"髋关节脱臼-畸形综合征","synonyms":["Collins-Pope综合征"]},"tr":{"name":"Kalça çıkığı-dismorfizm sendromu","synonyms":["Collins-Pope sendromu"]}},"xrefs":[{"source":"OMIM","code":"601450","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011081","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706570","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1428","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":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]}],"children":[],"genes":[{"symbol":"TRIM33","name":"tripartite motif containing 33","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"39054052[PMID]","hgnc":"16290","ensembl":"ENSG00000197323","omim":"605769","loci":["1p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"8574416[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8574416[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001702","label":"Abnormal tricuspid valve morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001374","label":"Congenital hip dislocation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004097","label":"Deviation of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000364","label":"Hearing abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010759","label":"Premaxillary Prominence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011328","label":"Abnormality of fontanelles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002815","label":"Abnormality of the knee","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null}]}}