{"orpha":2888,"name":"Pierre Robin syndrome-faciodigital anomaly syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Chitayat-Meunier-Hodgkinson syndrome","Pierre Robin sequence-faciodigital anomaly syndrome"],"definition":"A rare orofacial clefting syndrome characterized by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints). Growth and mental development were normal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2888/","orphanet_url":"https://www.orpha.net/en/disease/detail/2888","names":{"fr":{"name":"Syndrome de Pierre Robin-anomalie facio-digitale","synonyms":["Syndrome de Chitayat-Meunier-Hodgkinson","Syndrome de séquence de Pierre Robin-anomalie facio-digitale"],"definition":"Syndrome rare avec fente oro-faciale caractérisé par l'association d'une séquence de Pierre Robin (rétrognathisme, fente palatine et glossoptose), d'une dysmorphie faciale (un front haut avec des bosses frontales) et d'anomalies digitales (des doigts fuselés, des ongles hyperconvexes, une clinodactylie du 5ème doigt et des phalanges distales courtes, des pouces qui ressemblent aux autres doigts et des articulations métacarpophalangiennes qui se subluxent facilement). La croissance et le développement intellectuel sont normaux."},"de":{"name":"Pierre-Robin-Sequenz-fazio-digitale Anomalien-Syndrom","synonyms":["Chitayat-Meunier-Hodgkinson-Syndrom","Pierre-Robin-Syndrom mit fazio-digitalen Anomalien"],"definition":"Ein seltenes orofaziales Fehlbildungssyndrom, das durch die Kombination einer Pierre-Robin-Sequenz (Retrognathie, Gaumenspalte und Glossoptose) mit Gesichtsdysmorphien (hohe und vorgewölbte Stirn) und Fingeranomalien (konische Finger, hyperkonvexe Nägel, Klinodaktylie des Kleinfingers und kurze Endphalangen, fingerähnliche Daumen, leicht luxierbares Daumen-Grundgelenk) gekennzeichnet ist. Wachstum und interlektuelle Entwicklung waren normal."},"es":{"name":"Síndrome de Pierre Robin-anomalía faciodigital","synonyms":["Secuencia de Pierre Robin-anomalía faciodigital","Síndrome de Chitayat-Meunier-Hodgkinson"],"definition":"Es un síndrome de hendidura orofacial poco frecuente caracterizado por la asociación de: secuencia de Pierre Robin (retrognatia, fisura palatina y glosoptosis) con dismorfia facial (frente alta y abombada) y anomalías digitales (dedos ahusados, uñas hiperconvexas, clinodactilia del quinto dedo, acortamiento de las falanges distales, pulgares similares al resto de dedos y tendencia a la luxación de las articulaciones metacarpofalángicas). El crecimiento y el desarrollo intelectual son normales."},"it":{"name":"Sindrome di Pierre Robin - anomalia faciodigitale","synonyms":["Sequenza di Pierre Robin - anomalia faciodigitale","Sindrome di Chitayat-Meunier-Hodgkinson"]},"nl":{"name":"Syndroom van Pierre Robin - faciodigitale anomalie-syndroom","synonyms":["Pierre Robin sequentie - faciodigitale anomalie-syndroom","Syndroom van Chitayat-Meunier-Hodgkinson"],"definition":"Een zeldzaam syndroom van orofaciale schisis, gekenmerkt door de associatie van Pierre Robin sequentie (retrognathie, gespleten gehemelte en glossoptose) met faciale dysmorfie (hoog en boller voorhoofd) en digitale anomalieën (taps toelopende vingers, hyperconvexe nagels, clinodactylie van vijfde vingers en korte distale falangen, vingerachtige duimen en makkelijke subluxatie van eerste metacarpofalangeale gewrichten). Groei en mentale ontwikkeling zijn normaal."},"pt":{"name":"Síndrome de anomalia facio-digital-síndrome Pierre-Robin","synonyms":["Síndrome Chitayat-Meunier-Hodgkinson"],"definition":"Esta síndrome é caracterizada pela associação de sequência de Pierre Robin com dismorfismo facial (retrognatia, frontal alto e abaulado, fenda palatina e glossoptose) e anomalias digitais (dedos afilados, unhas hiperconvexas, clinodactilia dos quintos dedos, falanges distais curtas, polegares digitalizados e luxação primária das articulações metacarpofalangeanas)."},"pl":{"name":"Zespół Pierre'a Robina - anomalia twarzowo-palcowa","synonyms":["Sekwencja Pierre'a Robina - anomalia twarzowo-palcowa","Zespół Chitayata, Meuniera i Hodgkinsona"]},"cs":{"name":"Syndrom zahrnující Pierre Robinův syndrom a faciodigitální anomálii","synonyms":["Syndrom zahrnující Pierre Robinovu sekvenci a faciodigitální anomálie","Chitayatův-Meunierové-Hodgkinsonové syndrom","Chitayat-Meunier-Hodgkinsonové syndrom"]},"uk":{"name":"Синдром Пєра Робена з фаціодігітальними аномаліями","synonyms":["Синдром Чітаята-Муньє-Ходгкінсона","Синдром послідовності Пєра Робена-фаціально-дігітальних аномалій"],"definition":"A rare orofacial clefting syndrome characterized by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints). Growth and mental development were normal."},"zh":{"name":"Pierre-Robin综合征-面部手指异常综合征","synonyms":["Pierre Robin序列征-面指异常综合征"]},"tr":{"name":"Pierre Robin sendromu-fasiyodijital anomali sendromu","synonyms":["Chitayat-Meunier-Hodgkinson sendromu","Pierre Robin dizisi-fasiyodijital anomali sendromu"]}},"xrefs":[{"source":"OMIM","code":"311895","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010710","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564078","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931064","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1274","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"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":2.0,"area":"Worldwide","status":"Validated","source":"1897570[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1897570[PMID]"}],"phenotypes":null}