{"orpha":2804,"name":"W syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Pallister-W syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, neurologic signs and symptoms (such as seizures, spasticity, strabismus), characteristic dysmorphic facial features (including broad forehead, hypertelorism, downslanting palpebral fissures, broad and flat nasal bridge, midline notch of upper lip, lack of upper central incisors, incomplete oral cleft, and prominent mandible), and acne scars. Hearing impairment, pseudo-bulbar palsy, growth retardation, and skeletal anomalies (camptodactyly, clinodactyly, bilateral cubitus valgus, pes cavus/planus) have also been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2804/","orphanet_url":"https://www.orpha.net/en/disease/detail/2804","names":{"fr":{"name":"Syndrome W","synonyms":["Syndrome de Pallister W"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par une déficience intellectuelle modérée à sévère, des signes et symptômes neurologiques (convulsions, spasticité, strabisme), une dysmorphie faciale typique (front large, hypertélorisme, fentes palpébrales inclinées vers le bas, pont nasal large et plat, fente labiale médiane supérieure, absence d'incisives centrales supérieures, fente labio-palatine incomplète et mandibule proéminente) et cicatrices d'acné. Des troubles auditifs, une paralysie pseudobulbaire, un retard de croissance et des anomalies squelettiques (camptodactylie, clinodactylie, cubitus valgus bilatéral, pieds creux/plats) ont également été décrits."},"de":{"name":"W-Syndrom","synonyms":["Pallister-W-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch eine mäßige bis schwere Intelligenzminderung, neurologische Anzeichen und Symptome (wie Krampfanfälle, Spastik, Strabismus), charakteristische Gesichtsdysmorphien (einschließlich breiter Stirn, Hypertelorismus, schräg abwärts verlaufende Lidspalten, breiter und flacher Nasenrücken, Mittellinieneinkerbung der Oberlippe, Fehlen der oberen zentralen Schneidezähne, unvollständige Mundspalte und vorstehender Unterkiefer) und Aknenarben gekennzeichnet ist. Hörstörungen, Pseudobulbärparese, Wachstumsverzögerung und Skelettanomalien (Kamptodaktylie und Klinodaktylie, bilateraler Cubitus valgus, Pes cavus/planus) sind ebenfalls beschrieben worden."},"es":{"name":"Síndrome W","synonyms":["Síndrome de Pallister-W"],"definition":"Es un síndrome dismórfico/ con múltiples anomalías congénitas poco frecuente caracterizado por discapacidad intelectual de moderada a grave, signos y síntomas neurológicos (como crisis epilépticas, espasticidad, estrabismo), rasgos faciales dismórficos distintivos (frente ancha, hipertelorismo, fisuras palpebrales descendentes, puente nasal ancho y plano, hendidura en la línea media del labio superior, ausencia de incisivos centrales superiores, hendidura oral incompleta y mandíbula prominente) y lesiones acnéicas. También se ha descrito hipoacusia, parálisis pseudobulbar, retraso del crecimiento y anomalías esqueléticas (camptodactilia, clinodactilia, cúbito valgo bilateral, pie cavo/plano)."},"it":{"name":"Sindrome W","synonyms":["Sindrome di Pallister W"],"definition":"Si tratta di una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da disabilità intellettiva moderata-grave, sintomi neurologici (crisi epilettiche, spasticità, strabismo), dismorfismi facciali tipici (fronte ampia, ipertelorismo, rime palpebrali oblique verso il basso, sella nasale larga e piatta, fenditura sulla linea mediana del labbro superiore, agenesia degli incisivi centrali superiori, schisi orale incompleta e mandibola prominente) e cicatrici da acne. I pazienti possono presentare anche ipoacusia, paralisi pseudo-bulbare, ritardo della crescita e anomalie scheletriche (camptodattilia, clinodattilia, cubito valgo bilaterale, piede cavo/piatto)."},"nl":{"name":"W-syndroom","synonyms":["Pallister-W-syndroom"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door matige tot ernstige intellectuele achterstand, neurologische verschijnselen en symptomen (zoals insulten, spasticiteit, strabisme), typische dysmorfe gelaatskenmerken (waaronder breed voorhoofd, hypertelorisme, schuin naar beneden hellende ooglidspleten, brede en platte neusbrug, mediane inkeping van bovenlip, afwezigheid van bovenste centrale snijtanden, onvolledige orale spleet, en prominente onderkaak), en littekens van acne. Slechthorendheid, pseudobulbaire paralyse, groeiretardatie, en skeletanomalieën (camptodactylie, clinodactylie, bilaterale cubitus valgus, holvoet/platvoet) werden ook reeds beschreven."},"pt":{"name":"Síndrome W","synonyms":["Síndrome Pallister-W"]},"pl":{"name":"Zespół W","synonyms":["Zespół Pallistera i W"]},"cs":{"name":"W syndrom","synonyms":["Pallisterův W syndrom"]},"uk":{"name":"W-синдром","synonyms":["Синдром Паллістера-В"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, neurologic signs and symptoms (such as seizures, spasticity, strabismus), characteristic dysmorphic facial features (including broad forehead, hypertelorism, downslanting palpebral fissures, broad and flat nasal bridge, midline notch of upper lip, lack of upper central incisors, incomplete oral cleft, and prominent mandible), and acne scars. Hearing impairment, pseudo-bulbar palsy, growth retardation, and skeletal anomalies (camptodactyly, clinodactyly, bilateral cubitus valgus, pes cavus/planus) have also been described."},"zh":{"name":"W综合征","synonyms":["Pallister-W综合征"]},"tr":{"name":"W sendromu","synonyms":["Pallister-W sendromu"]}},"xrefs":[{"source":"OMIM","code":"311450","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010708","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538106","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796110","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"358","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10084236","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":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"10594887[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-08-21","source":"8287184[PMID]_10594887[PMID]","terms":[{"hpo":"HP:0100037","label":"Abnormality of the scalp hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006293","label":"Agenesis of maxillary central incisor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001137","label":"Alternating esotropia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010809","label":"Broad uvula","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012385","label":"Camptodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030084","label":"Clinodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002967","label":"Cubitus valgus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003022","label":"Hypoplasia of the ulna","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001840","label":"Metatarsus adductus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002986","label":"Radial bowing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000176","label":"Submucous cleft hard palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100268","label":"Upper lip pit","frequency":"Very frequent (99-80%)","criteria":null}]}}