{"orpha":1130,"name":"Arachnodactyly-intellectual disability-dysmorphism syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["De Die-Smulders-Vles-Fryns syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1130/","orphanet_url":"https://www.orpha.net/en/disease/detail/1130","names":{"fr":{"name":"Syndrome d'arachnodactylie-déficience intellectuelle-dysmorphie","synonyms":["Syndrome de De Die-Smulders-Vles-Fryns"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par une dysmorphie faciale (brachycéphalie, visage triangulaire long et étroit, front proéminent, hypertélorisme, philtrum plat, microstomie, lèvres fines, hypoplasie maxillaire), habitus marfanoïde avec arachnodactylie et déficience intellectuelle modérée à sévère. Les autres signes sont une clinodactylie, des pouces triphalangés, des orteils en griffe, une hyperlaxité articulaire, une hypotonie, une hyperréflexie et des muscles insuffisamment développés. Un retard de développement des organes génitaux externes, ainsi que des crises convulsives et une régurgitation mitrale, ont été rapportés dans certains cas. Aucun cas n'a été décrit dans la littérature depuis 1995."},"de":{"name":"Arachnodaktylie-Intelligenzminderung-Dysmorphie-Syndrom","synonyms":["Die-Smulders-Vles-Fryns-Syndrom"],"definition":"Ein seltenes Fehlbildungssyndrom, das gekennzeichnet ist durch Gesichtsdysmorphie (Brachyzephalie, langes, schmales, dreieckiges Gesicht, prominente Stirn, Hypertelorismus, flaches Philtrum, Mikrostomie, dünne Lippen, hypoplastischer Oberkiefer) mit marfanoiden Habitus, Arachnodaktylie und mittlere bis schwere Intelligenzminderung. Weitere Merkmale können Klinodaktylie, dreiseitige Daumen, hammerförmige Zehen, hyperextensible Gelenke, Hypotonie, Hyperreflexie und unterentwickelte Muskulatur sein. In einigen Fällen wurde über eine verzögerte Entwicklung der äußeren Genitalien sowie über Krampfanfälle und Mitralinsuffizienz berichtet. Seit 1995 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de aracnodactilia-discapacidad intelectual-dismorfia","synonyms":["Síndrome de De Die-Smulders-Vles-Fryns"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas poco frecuente caracterizado por dismorfia facial (braquicefalia, cara alargada, estrecha y triangular, frente prominente, hipertelorismo, filtrum plano, microstomia, labios delgados, hipoplasia maxilar), hábito marfanoide con aracnodactilia y discapacidad intelectual de moderada a grave. Otros hallazgos adicionales pueden incluir clinodactilia, pulgares trifalángicos, dedos de los pies en martillo, articulaciones hiperextensibles, hipotonía, hiperreflexia y escaso desarrollo muscular. En algunos casos se ha descrito un retraso en el desarrollo de los genitales externos, así como convulsiones e insuficiencia mitral. No ha habido más casos descritos en la literatura desde 1995."},"it":{"name":"Sindrome aracnodattilia-disabilità intellettiva-dismorfismi","synonyms":["Sindrome di Die Smulders-Vles-Fryns"],"definition":"È una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da dismorfismi facciali (brachicefalia, viso triangolare lungo e stretto, fronte prominente, ipertelorismo, filtro piatto, microstomia, labbra sottili, mascella ipoplastica), habitus marfanoide, aracnodattilia e disabilità intellettiva moderata-grave. Altri segni clinici sono la clinodattilia, i pollici trifalangei, le dita dei piedi a martello, l'iperlassità articolare, l'ipotonia, l'iperreflessia e l'iposviluppo della muscolatura. Alcuni pazienti presentano un ritardo nello sviluppo dei genitali esterni, crisi epilettiche e rigurgito mitralico. Non sono stati descritti nuovi casi dopo il 1995."},"nl":{"name":"Arachnodactylie - intellectuele achterstand - dysmorfie-syndroom","synonyms":["Syndroom van De Die-Smulders-Vles-Fryns"],"definition":"Een zeldzaam meervoudige congenitale anomalieën/dysmorfie-syndroom gekarakteriseerd door faciale dysmorfie (brachycefalie; lang, smal, driehoekig gezicht; prominent voorhoofd; hypertelorisme; plat filtrum; microstomie, dunne lippen; hypoplastische bovenkaak), marfanoïde habitus met arachnodactylie, en matige tot ernstige intellectuele achterstand. Mogelijke bijkomende kenmerken zijn onder meer clinodactylie, trifalangeale duimen, hamertenen, hypermobiele gewrichten, hypotonie, hyperreflexie en onderontwikkelde musculatuur. Vertraagde ontwikkeling van uitwendige geslachtsorganen, alsook insulten en mitralisklepregurgitatie werden ook gerapporteerd in enkele gevallen. Sinds 1995 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de aracnodactilia-perturbação do desenvolvimento intelectual-dismorfia","synonyms":["Síndrome De Die Smulders-Vles-Fryns"]},"pl":{"name":"Arachnodaktylia - niepełnosprawność intelektualna - dysmorfia","synonyms":["Zespół De Die, Smuldersa, Vlesa i Frynsa"]},"cs":{"name":"Syndrom zahrnující arachnodaktylii, mentální retardaci a dysmorfii","synonyms":["De Die-Smuldersové-Vlesův-Frynsův syndrom","De Die-Smulders-Vles-Frynsův syndrom"]},"uk":{"name":"Синдром арахнодактилії-інтелектуальної недостатності-дисморфізму","synonyms":["Синдром Де Ді-Смульдерса-Влеса-Фрінса"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia, thin lips, hypoplastic maxilla), marfanoid habitus with arachnodactyly, and moderate to severe intellectual disability. Additional features may include clinodactyly, triphalangeal thumbs, hammer-shaped toes, hyperextensible joints, hypotonia, hyperreflexia and underdeveloped musculature. Delayed external genitalia development, as well as seizures and mitral regurgitation have been reported in some cases. There have been no further descriptions in the literature since 1995."},"zh":{"name":"蜘蛛指畸形-智力障碍-外貌畸形综合征","synonyms":["De Die-Smulders-Vles-Fryns 综合征"]},"tr":{"name":"Araknodaktili-zihinsel yetersizlik-dismorfizm sendromu","synonyms":["De Die-Smulders-Vles-Fryns sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015235","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304030","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"764","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"8357568[PMID]_7794564[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8357568[PMID]_7794564[PMID]"}],"phenotypes":null}