{"orpha":3448,"name":"Weaver-Williams syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3448/","orphanet_url":"https://www.orpha.net/en/disease/detail/3448","names":{"fr":{"name":"Syndrome de Weaver-Williams","definition":"Le syndrome de Weaver-Williams est un syndrome d'anomalies congénitales multiples caractérisé par un déficit intellectuel modéré à sévère, une diminution de la masse musculaire, une microcéphalie, une dysmorphie faciale (oreilles proéminentes, hypoplasie de l'étage moyen de la face, petite bouche et fente palatine), une clinodactylie des doigts, un retard de la maturation osseuse et une hypoplasie généralisée des os. Le syndrome a été décrit chez un frère et une soeur, et un mode de transmission autosomique récessive a été suggéré. Il n'y a pas eu de description ultérieure dans la littérature depuis 1977."},"de":{"name":"Weaver-Williams-Syndrom","definition":"Das Weaver-Williams-Syndrom ist ein Syndrom mit multiplen angeborenen Anomalien, das durch eine mittelschwere bis schwere Intelligenzminderung, verminderte Muskelmasse, Mikrozephalie, Gesichtsdysmorphismus (markante Ohren, Mittelgesichtshypoplasie, kleiner Mund und Gaumenspalte), Klinodaktylie der Finger, verzögerte Knochenreifung und generalisierte Knochenhypoplasie gekennzeichnet ist. Das Syndrom wurde bei einem Bruder und einer Schwester beschrieben und ein autosomal-rezessiver Vererbungsmodus wurde vorgeschlagen. Seit 1977 gibt es in der Literatur keine weiteren Beschreibungen."},"es":{"name":"Síndrome de Weaver-Williams","definition":"El síndrome de Weaver-Williams es un síndrome de anomalías congénitas múltiples caracterizado por una discapacidad intelectual de moderada a grave, una masa muscular disminuida, microcefalia, dismorfismo facial (orejas prominentes, hipoplasia del tercio medio facial, boca pequeña y labio leporino), clinodactilia de los dedos, maduración ósea retrasada e hipoplasia ósea generalizada. El síndrome se ha descrito en dos hermanos de distinto sexo y se ha sugerido un modo de herencia autosómico recesivo. No se han encontrado más descripciones en la literatura desde 1977."},"it":{"name":"Sindrome di Weaver-Williams","definition":"La sindrome di Weaver-Williams è una malattia caratterizzata da anomalie congenite multiple con disabilità moderata-grave, riduzione della massa muscolare, microcefalia, dismorfismi facciali (orecchie prominenti, ipoplasia medio-facciale, bocca piccola e palatoschisi), clinodattilia delle dita delle mani, ritardo della maturazione ossea e ipoplasia scheletrica generalizzata. La sindrome è stata descritta in una coppia fratello-sorella ed è stata ipotizzata una trasmissione autosomica recessiva. Non sono stati riportati nuovi casi dal 1977."},"nl":{"name":"Weaver-Williamssyndroom","definition":"Weaver-Williamssyndroom is een syndroom met meervoudige congenitale afwijkingen, gekenmerkt door een matige tot ernstige intellectuele achterstand, afgenomen spiermassa, microcefalie, aangezichtsdysmorfie (prominente oren, middengezichtshypoplasie, een kleine mond en een gespleten gehemelte), clinodactylie van de vingers, een vertraagde botmaturatie en gegeneraliseerde bothypoplasie. Het syndroom werd beschreven bij een broer en een zus en een autosomaal recessieve wijze van overerving werd gesuggereerd. Sinds 1977 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome Weaver-Williams","definition":"A síndrome de Wiedemann-Rautenstrauch é uma patologia muito rara com características de envelhecimento prematuro reconhecíveis à nascença, diminuição da gordura subcutânea, hipotricose, macrocefalia relativa e dismorfismo."},"pl":{"name":"Zespół Weavera i Williamsa"},"cs":{"name":"Weaverův-Wiliamsův syndrom","synonyms":["Weaver-Wiliamsův syndrom"]},"uk":{"name":"Синдром Вівера-Вільямса","definition":"Weaver-Williams syndrome is a multiple congenital anomalies syndrome characterized by moderate-to-severe intellectual disability, decreased muscle mass, microcephaly, facial dysmorphism (prominent ears, midfacial hypoplasia, small mouth and cleft palate), clinodactyly of the fingers, delayed osseous maturation and generalized bone hypoplasia. The syndrome has been described in a brother and sister and an autosomal recessive mode of inheritance has been suggested. There have been no further descriptions in the literature since 1977."},"zh":{"name":"Weaver-Williams综合征"},"tr":{"name":"Weaver-Williams sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018095","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796198","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5545","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"890101[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_890101[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-07-08","source":"890101[PMID]","terms":[{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0004325","label":"Decreased body weight","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null}]}}