{"orpha":313795,"name":"Jawad syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-313795/","orphanet_url":"https://www.orpha.net/en/disease/detail/313795","names":{"fr":{"name":"Syndrome de Jawad","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par une microcéphalie congénitale accompagnée d'une dysmorphie faciale (front fuyant, nez proéminent, légère rétrognathie), d'une déficience intellectuelle modérée à sévère et non progressive et de malformations digitales symétriques de degré variable, y compris une brachydactylie des 5<sup>es</sup> doigts avec un seul pli de flexion, une clinodactylie, une syndactylie, une polydactylie et un hallux valgus. Une anonychie congénitale et des taches de type « café au lait » sur la peau des mains et des pieds sont également associées."},"de":{"name":"Jawad-Syndrom"},"es":{"name":"Síndrome de Jawad","definition":"Es un síndrome dismórfico de múltiples anomalías congénitas, genético y poco frecuente, caracterizado por microcefalia congénita con dismorfia facial (frente inclinada, nariz prominente, leve retrognatia), discapacidad intelectual no progresiva, de moderada a grave y malformaciones simétricas de los dedos de grado variable, que incluyen braquidactilia de los quintos dedos con pliegue de flexión único, clinodactilia, sindactilia, polidactilia y hallux valgus. También se asocian anoniquia congénita y manchas blancas y café con leche en la piel de manos y pies."},"it":{"name":"Sindrome di Jawad","definition":"La sindrome di Jawad è una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da microcefalia congenita associata a dismorfismi facciali (fronte sfuggente, naso prominente, lieve retrognazia), disabilità intellettiva moderata-grave non progressiva e variabili malformazioni simmetriche delle dita, compresa la brachidattilia del quinto dito con una singola piega di flessione, la clinodattilia, la sindattilia, la polidattilia e l'alluce valgo. I pazienti presentano inoltre anonichia e macchie caffè-latte bianche sulla cute delle mani e dei piedi"},"nl":{"name":"Syndroom van Jawad","definition":"Syndroom van Jawad is een zeldzaam, genetisch meervoudige congenitale anomalieën/dysmorfie-syndroom dat gekarakteriseerd wordt door congenitale microcefalie met faciale dysmorfie (hellend voorhoofd, uitgesproken neus, milde retrognathie), matige tot ernstige, niet-progressieve intellectuele invaliditeit en variabele gradaties van symmetrische misvormingen van vingers/tenen, waaronder brachydactylie van de vijfde vingers met één enkele flexieplooi, clinodactylie, syndactylie, polydactylie en hallux valgus. Congenitale anonychie en witte café-au-lait-achtige vlekken op de huid van handen en voeten zijn ook geassocieerd."},"pt":{"name":"Síndrome de Jawad"},"pl":{"name":"Zespół Jawad","definition":"*Zespół Jawad to rzadki, genetycznie uwarunkowany zespół mnogich wad wrodzonych/zespół dysmorficzny, który charakteryzuje się wrodzonym małogłowiem z dysmorfią twarzy (spadziste czoło, wydatny nos, łagodna retrognacja), umiarkowaną lub ciężką, niepostępującą niepełnosprawnością intelektualną i symetrycznymi wadami palców różnego stopnia, w tym skróceniem piątych palców z pojedynczą bruzdą zgięciową, klinodaktylią, palcozrostami, wielopalczastością oraz koślawością palucha. Mogą towarzyszyć: wrodzony niedorozwój lub brak paznokci oraz i plamy typu „kawy z mlekiem” na skórze dłoni i stóp."},"cs":{"name":"Jawadův syndrom"},"uk":{"name":"Синдром Джавада","definition":"Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated."},"zh":{"name":"贾瓦德综合征","definition":"Jawad综合征是一种罕见的遗传性多发性先天畸形综合征，其特征是先天性小头畸形，面部畸形（前额倾斜，鼻子突出，轻度下颌后缩），中至重度、非进行性智力障碍和不同程度的对称手指畸形，包括第五指短指畸形伴单一屈曲折痕，并指、弯指、多指和拇外翻。也可表现为先天性甲癣和手足皮肤上的白色咖啡因样斑点。"},"tr":{"name":"Jawad sendromu"}},"xrefs":[{"source":"OMIM","code":"251255","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009622","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567101","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796063","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":137653,"name":"Microcephaly-digital anomalies-intellectual disability syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"RBBP8","name":"RB binding protein 8, endonuclease","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9891","ensembl":"ENSG00000101773","omim":"604124","loci":["18q11.2"]}],"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":"21998596[PMID]_8434622[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21998596[PMID]_8434622[PMID]"}],"phenotypes":null}