{"orpha":468678,"name":"White-Sutton syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome"],"definition":"A rare, genetic, syndromic intellectual disability disorder characterized by craniofacial features, global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressiveness, and self-injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-468678/","orphanet_url":"https://www.orpha.net/en/disease/detail/468678","names":{"fr":{"name":"Syndrome de White-Sutton","synonyms":["Syndrome de déficience intellectuelle-microcéphalie-strabisme-troubles du comportement"],"definition":"Déficience intellectuelle syndromique rare d'origine génétique caractérisée par une dysmorphie craniofaciale, un retard de développement global, une déficience intellectuelle et divers troubles du neurocomportement (trouble du spectre de l'autisme, agressivité, automutilation). Les autres manifestations sont des troubles de la vision et une surdité neurosensorielle variable, ainsi qu'une petite taille, une hypotonie et des troubles gastro-intestinaux (faible appétit, reflux gastro-oesophagien, constipation)."},"de":{"name":"White-Sutton-Syndrom","synonyms":["Intelligenzminderung-Mikrozephalie-Strabismus-Verhaltensstörungen-Syndrom"],"definition":"Eine seltene, genetisch bedingte, syndromale Form der Intelligenzminderung, die durch kraniofaziale Merkmale, eine globale Entwicklungsverzögerung, eine intellektuelle Beeinträchtigung und variable neurologische Verhaltensanomalien (Autismus-Spektrum-Störung, Aggressivität und Selbstverletzung) gekennzeichnet ist. Weitere Merkmale sind Sehstörungen und variable sensorineurale Schwerhörigkeit sowie Kleinwuchs, Hypotonie und gastrointestinale Manifestationen (z. B. schlechte Nahrungsaufnahme, gastroösophagealer Reflux, Verstopfung)."},"es":{"name":"Síndrome de White-Sutton","synonyms":["Síndrome de discapacidad intelectual-microcefalia-estrabismo-trastornos de conducta"],"definition":"Es un trastorno sindrómico de discapacidad intelectual, poco frecuente y de origen genético, caracterizado por dismorfia craneofacial, retraso global del desarrollo, discapacidad intelectual y diversas anomalías neuroconductuales (trastorno del espectro autista, agresividad y conducta autolesiva). Otros hallazgos adicionales incluyen anomalías visuales y pérdida auditiva neurosensorial variable, así como talla baja, hipotonía y manifestaciones gastrointestinales (como problemas de la alimentación, reflujo gastroesofágico, estreñimiento)."},"it":{"name":"Sindrome di White-Sutton","synonyms":["Sindrome da disabilità intellettiva, microcefalia, strabismo, anomalie del comportamento","Sindrome disabilità intellettiva-microcefalia-strabismo-anomalie del comportamento"],"definition":"Si tratta di una disabilità intellettiva sindromica rara, di origine genetica, caratterizzata da dismorfismi craniofacciali, ritardo dello sviluppo globale, disabilità intellettiva e anomalie neuro-comportamentali variabili (disturbi dello spettro autistico, aggressività e autolesionismo). I pazienti possono presentare anche anomalie della vista, sordità neurosensoriale di gravità variabile, bassa statura, ipotonia e sintomi gastrointestinali (ad es. difficoltà di alimentazione, reflusso gastroesofageo, costipazione)."},"nl":{"name":"Syndroom van White-Sutton","synonyms":["Intellectuele achterstand - microcefalie - strabisme - gedragsstoornissen-syndroom"],"definition":"Een zeldzame, genetische syndromale aandoening met intellectuele achterstand, gekarakteriseerd door craniofaciale kenmerken, algehele ontwikkelingsachterstand, intellectuele achterstand, en variabele neurologische gedragsafwijkingen (autismespectrumstoornis, agressiviteit, en zelfverwonding). Bijkomende kenmerken zijn onder meer afwijkend gezichtsvermogen en variabel sensorineuraal gehoorverlies, alsook kleine gestalte, hypotonie en gastro-intestinale manifestaties (e.g. weinig eten, gastro-oesofageale reflux, constipatie)."},"pt":{"name":"Síndrome White-Sutton","synonyms":["Síndrome de perturbação do desenvolvimento intelectual-microcefalia-estrabismo-perturbações comportamentais"]},"pl":{"name":"Zespół Whitego i Suttona","synonyms":["Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome"]},"cs":{"name":"Syndrom zahrnující mentální postižení, mikrocefalii, strabismus a poruchy chování","synonyms":["Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome"]},"uk":{"name":"Синдром Уайта-Саттона","synonyms":["Синдром інтелектуальної недостатності - мікроцефалії - косоокості - поведінкових відхилень"],"definition":"A rare, genetic, syndromic intellectual disability disorder characterized by craniofacial features, global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressiveness, and self-injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation)."},"zh":{"name":"智力障碍-小头畸形-斜视-行为异常综合征","synonyms":["怀特-萨顿综合征"],"definition":"智力障碍-小头畸形-斜视-行为异常综合征是一种罕见的、遗传性的、以颅面畸形（小头畸形、肌无力面容、斜视、长而平的脸颊、后方旋转耳、鼻梁平坦伴宽鼻尖、短唇，薄唇红缘，开口嘴角下翻，高腭穹，尖下巴），全面发育迟缓，智力障碍和多种神经行为异常（自闭症谱系障碍，攻击性，自伤）为特征的综合智力障碍性疾病。其他特征包括视力异常和各种感音神经性听力损失，以及身材矮小、肌张力低下和胃肠道表现（如喂养困难、胃食管反流、便秘）。"},"tr":{"name":"Zihinsel yetersizlik-mikrosefali-şaşılık-davranışsal anormallikler sendromu","synonyms":["White-Sutton sendromu"]}},"xrefs":[{"source":"OMIM","code":"616364","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014606","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4225351","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":[{"symbol":"POGZ","name":"pogo transposable element derived with ZNF domain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26739615[PMID]","hgnc":"18801","ensembl":"ENSG00000143442","omim":"614787","loci":["1q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26739615[PMID]_27148570[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-07-10","source":"30136090[PMID]_26739615[PMID]_26942287[PMID]_25533962[PMID]","terms":[{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","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:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006863","label":"Severe expressive language delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000733","label":"Abnormal repetitive mannerisms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000356","label":"Abnormality of the outer ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012450","label":"Chronic constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000194","label":"Open mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000307","label":"Pointed chin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002188","label":"Delayed CNS myelination","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012448","label":"Delayed myelination","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000081","label":"Duplicated collecting system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002280","label":"Enlarged cisterna magna","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000297","label":"Facial hypotonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002373","label":"Febrile seizure (within the age range of 3 months to 6 years)","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012110","label":"Hypoplasia of the pons","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002311","label":"Incoordination","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100716","label":"Self-injurious behavior","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012157","label":"Subcortical cerebral atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002933","label":"Ventral hernia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001045","label":"Vitiligo","frequency":"Very rare (<4-1%)","criteria":null}]}}