{"orpha":2720,"name":"Oculocerebral hypopigmentation syndrome, Preus type","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2720/","orphanet_url":"https://www.orpha.net/en/disease/detail/2720","names":{"fr":{"name":"Syndrome oculo-cérébral d'hypopigmentation, type Preus","definition":"Le syndrome oculo-cérébral d'ypopigmentation, type Preus est un syndrome congénital rare caractérisé par une hypopigmentation cutanée et des cheveux, un retard de croissance et une déficience intellectuelle associés à une combinaison de nombreuses autres anomalies telles qu'un albinisme oculaire, une cataracte, un retard du développement neuropsychomoteur, une surdité neurosensorielle, une dolichocéphalie, un palais ogival, des dents très espacées, une anémie et/ou un nystagmus."},"de":{"name":"Okulozerebrales Hypopigmentierungs-Syndrom Typ Preus","definition":"Das Okulo-zerebrale Hypopigmentierungs-Syndrom Typ Preus ist ein seltenes angeborenes Syndrom mit mangelnder Pigmentierung der Haut und der Haare, Kleinwuchs und intellektuellem Defizit, in Kombination mit verschiedenen zusätzlichen klinischen Anomalien (z.B. Okulärer Albinismus, Katarakt, verzögerte neuro-psycho-motorische Entwicklung, Schallempfindungs-Schwerhörigkeit, Dolichozephalie, hoher Gaumenbogen, weiter Zahnabstand, Anämie und/oder Nystagmus)."},"es":{"name":"Síndrome oculocerebral-hipopigmentación tipo Preus","definition":"El síndrome oculocerebral-hipopigmentación tipo Preus es un síndrome congénito poco frecuente que se caracteriza por hipopigmentación de la piel y el pelo, retraso en el crecimiento y déficit intelectual, que están asociados con una combinación de varias anomalías clínicas adicionales como albinismo ocular, cataratas, retraso en el desarrollo neuropsicomotor, pérdida de audición neurosensorial, dolicocefalia, paladar arqueado alto, dientes muy espaciados, anemia, y/o nistagmo."},"it":{"name":"Sindrome oculo-cerebrale-ipopigmentazione, tipo Preus","definition":"La sindrome da ipopgimentazione oculocerebrale tipo Preus è una sindrome congenita rara, caratterizzata da ipopigmentazione cutanea e dei capelli, ritardo della crescita, e deficit cognitivo, che si associa a diverse altre anomalie cliniche, come l'albinismo oculare, la cataratta, il ritardo dello sviluppo psicomotorio, la sordità neurosensoriale, la dolicocefalia, il palato ogivale, i denti iperdistanziati, l'anemia e/o il nistagmo."},"nl":{"name":"Oculocerebrale hypopigmentatie-syndroom, Preus-type","definition":"Een zeldzaam congenitaal syndroom, gekenmerkt door hypopigmentatie van huid en haar, groeiretardatie, en intellectuele achterstand, geassocieerd met een combinatie van verschillende bijkomende klinische anomalieën zoals oculair albinisme, cataract, vertraagde neuropsychomotorische ontwikkeling, sensorineuraal gehoorverlies, dolichocefalie, hoog gebogen gehemelte, ver uit elkaar staande tanden, anemie, en/of nystagmus."},"pt":{"name":"Síndrome hipopigmentação oculo-cerebral, tipo Preus"},"pl":{"name":"Zespół hipopigmentacji oczno-mózgowej typu Preus"},"cs":{"name":"Syndrom okulocerebrální hypopigmentace, Preusův typ"},"uk":{"name":"Окулоцеребральний синдром з гіпопігментацією, тип Преуса","definition":"Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus."},"zh":{"name":"眼脑色素沉着不足综合征，Preus型"},"tr":{"name":"Oküloserebral hipopigmentasyon sendromu, Preus tipi"}},"xrefs":[{"source":"OMIM","code":"257790","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E70.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009766","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537866","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931646","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4034","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]},{"orpha":284811,"name":"Syndromic oculocutaneous albinism","classifications":[156,187,189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"6663291[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6663291[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007513","label":"Generalized hypopigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001931","label":"Hypochromic anemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007730","label":"Iris hypopigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011364","label":"White hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002363","label":"Abnormal brainstem morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001874","label":"Abnormality of neutrophils","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010662","label":"Abnormality of the diencephalon","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001107","label":"Ocular albinism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000091","label":"Abnormal renal tubule morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000613","label":"Photophobia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Occasional (29-5%)","criteria":null}]}}