{"orpha":364577,"name":"Intellectual disability-brachydactyly-Pierre Robin syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-364577/","orphanet_url":"https://www.orpha.net/en/disease/detail/364577","names":{"fr":{"name":"Syndrome de Pierre Robin-déficience intellectuelle-brachydactylie","definition":"Anomalie rare du développement embryonnaire. Le syndrome se caractérise par une dédicience intellectuelle et un retard psychomoteur légers à modérés, une séquence de Pierre-Robin (incluant une micrognathie sévère et une fente vélaire) et une dysmorphie faciale caractéristique (synophris, fentes palpébrales courtes, hypertélorisme, petites oreilles implantées bas et orientées vers l'arrière, nez bulbeux, philtrum long/plat, lèvre supérieure en arc de Cupidon). Des anomalies squelettiques telles qu'une brachydactylie, une clinodactylie, de petites mains et pieds, et des manifestations orales (langue courte et bifide, oligodontie) sont aussi associées. Les autres signes rapportés sont une microcéphalie, des hémangiomes capillaires sur le visage et le cuir chevelu, une communication interventriculaire, une opacification de la cornée, un nystagmus et une surdité neurosensorielle profonde."},"de":{"name":"Intelligenzminderung-Brachydaktylie-Pierre Robin-Syndrom","definition":"Ein seltener Entwicklungsfehler während der Embryogenese, der durch eine leichte bis mittlere Intelligenzminderung und phsychomotorische Verzögerung, Robin-Sequenz (incl. schwere Mikrognathie und weiche Gaumenspalte) und ausgeprägte dysmorphe Gesichtsmerkmale (z.B. Synophris, kurze Lidspalten, Hypertelorismus, kleine, tief angesetzte und nach hinten abgewinkelte Ohren, Knollennase, langes/flaches Philtrum und bogenförmige Oberlippe) gekennzeichnet ist. Skelettanomalien wie Brachydaktylie, Klinodaktylie, kleine Hände und Füße sowie orale Manifestationen (z. B. bifide, kurze Zunge, Oligodontie) sind ebenfalls assoziiert. Weitere beschreibene Merkmale sind Mikrozephalie, kapillare Hämangiome im Gesicht und auf der Kopfhaut, Ventrikelseptumdefekt, Hornhauttrübung, Nystagmus und hochgradige sensorineurale Taubheit."},"es":{"name":"Síndrome de Pierre Robin-discapacidad intelectual-braquidactilia","definition":"El síndrome de Pierre Robin-discapacidad intelectual-braquidactilia es un defecto del desarrollo durante la embriogénesis poco frecuente, caracterizado por discapacidad intelectual y retraso psicomotor de leve a moderados, secuencia de Robin (incluyendo micrognatia severa y hendidura del paladar blando) y características faciales dismórficas distintivas (por ejemplo, sinofridia, fisuras palpebrales cortas, hipertelorismo, orejas pequeñas de implantación baja y rotadas posteriormente, nariz bulbosa, filtrum largo/plano y labio superior en forma de arco). También se asocia a anomalías esqueléticas, tales como braquidactilia, clinodactilia, manos y pies pequeños y manifestaciones orales (p. ej., lengua corta bífida, oligodoncia). Otras características adicionales descritas incluyen microcefalia, hemangiomas capilares en la cara y el cuero cabelludo, defecto del tabique ventricular, opacidad corneal, nistagmo y sordera neurosensorial profunda."},"it":{"name":"Sindrome di Pierre Robin - brachidattilia - disabilità intellettiva","definition":"La sindrome di Pierre Robin associata a disabilità intellettiva e brachidattilia è un difetto raro dello sviluppo dell'embrione, caratterizzato da disabilità intellettiva lieve o moderata, ritardo psicomotorio, sequenza di Robin (micrognatia grave, schisi del palato molle) e dismorfismi facciali caratteristici (sinofria, rime palpebrali corte, ipertelorismo, orecchie piccole, a basso impianto e retro-ruotate, naso globoso, filtro lungo/piatto e labbro superiore ad arco). Si possono associare anomalie scheletriche (brachidattilia, clinodattilia, ipoplasia delle mani e dei piedi) e del cavo orale (lingua corta e bifida, oligodontia). Altri segni clinici sono la microcefalia, gli emangiomi capillari sul volto e sul cuoio capelluto, i difetti del setto ventricolare, le opacità corneali, il nistagmo e la sordità neurosensoriale profonda."},"nl":{"name":"Intellectuele achterstand - brachydactylie - Pierre Robin sequentie-syndroom","definition":"Intellectuele achterstand - brachydactylie - Pierre Robin-syndroom is een zeldzaam syndroom met een ontwikkelingsdefect tijdens de embryogenese dat gekarakteriseerd wordt door milde tot matige intellectuele en psychomotorische achterstand, Robin sequentie (incl. ernstige micrognathie gespleten zacht verhemelte) en typische dysmorfe faciale kenmerken (e.g. synophrys, korte ooglidspleten, hypertelorisme, kleine, laagstaande, en naar achter gedraaide oren, bolle neus, lang/plat filtrum, en boogvormige bovenlip). Skeletale anomalieën, zoals brachydactylie, clinodactylie, kleine handen en voeten, en orale manifestaties (e.g. gespleten, korte tong, oligodontie) zijn ook geassocieerd. Bijkomende kenmerken die werden gerapporteerd, zijn onder meer microcefalie, capillaire hemangiomen op het gelaat en de hoofdhuid, ventrikelseptumdefect, vertroebeling van het hoornvlies, nystagmus en diepe sensorineurale doofheid."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-braquidactilia-sequência de Pierre Robin"},"pl":{"name":"Zespół Pierre'a Robina z niepełnosprawnością intelektualną i brachydaktylią"},"cs":{"name":"Syndrom zahrnující mentální retardaci, brachydaktylii a Pierre Robinovu anomálii"},"uk":{"name":"Інтелектуальна недостатність-брахідактилія-синдром Пєра Робена","definition":"Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness."},"zh":{"name":"智力障碍-短指-皮埃尔罗宾综合征","definition":"智力障碍-短指-Pierre Robin 综合征是胚胎发育综合征中一种罕见的发育缺陷，其特征是轻至中度的智力障碍和动作迟缓、罗宾序列症(包括严重的小下颌和腭裂)和明显的面部畸形(如内耳裂、短睑裂、眼距过宽、小低位后倾耳、球状鼻、长/平人中和弓形上唇)。骨骼异常（如短指、斜指、小手和小脚）和口腔异常(如分叉短舌、少齿)也与本病相关。已被报道的其他疾病特征包括小头畸形、面部和头皮毛细血管瘤、室间隔缺损、角膜混浊、眼球震颤和极重度的感觉神经性耳聋。"},"tr":{"name":"Zihinsel yetersizlik-brakidaktili-Pierre Robin sendromu"}},"xrefs":[{"source":"OMIM","code":"608670","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012095","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706564","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":363294,"name":"Genetic syndromic Pierre Robin syndrome","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":138044,"name":"Rare disease with Pierre Robin syndrome","classifications":[147,200,209]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"15057987[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_15057987[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-11-20","source":"11337748[PMID]_15057987[PMID]","terms":[{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002263","label":"Exaggerated cupid's bow","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011341","label":"Long upper lip","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000201","label":"Pierre-Robin sequence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012745","label":"Short palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011078","label":"Abnormality of canine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006289","label":"Agenesis of central incisor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009246","label":"Aplasia of the distal phalanx of the 5th finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100380","label":"Aplasia of the distal phalanx of the 5th toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000414","label":"Bulbous nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000957","label":"Cafe-au-lait spot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010752","label":"Cleft mandible","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011401","label":"Delayed peripheral myelination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000232","label":"Everted lower lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000996","label":"Facial capillary hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000171","label":"Microglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000677","label":"Oligodontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012370","label":"Prominence of the zygomatic bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005487","label":"Prominent metopic ridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000426","label":"Prominent nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002000","label":"Short columella","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000385","label":"Small earlobe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001792","label":"Small nail","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045074","label":"Thin eyebrow","frequency":"Occasional (29-5%)","criteria":null}]}}