{"orpha":1389,"name":"Cortical blindness-intellectual disability-polydactyly syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (incl. prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1389/","orphanet_url":"https://www.orpha.net/en/disease/detail/1389","names":{"fr":{"name":"Syndrome de cécité corticale-déficience intellectuelle-polydactylie","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique, caractérisées par une cécité congénitale totale et corticale, une déficience intellectuelle, une polydactylie postaxiale des mains et des pieds, un retard de croissance prénatal et postnatal, un retard de développement psychomoteur et un dysmorphisme facial léger (notamment front proéminent, nez court, long philtrum, palais haut et microretrognathie). Des infections respiratoires et intestinales récurrentes, ainsi qu'une hypertonie et une hyperréflexie modérées sont également rapportées. Aucun cas n'a été décrit dans la littérature depuis 1985."},"de":{"name":"Kortikale Blindheit-Intelligenzminderung-Polydaktylie-Syndrom","definition":"Ein seltenes, genetisch bedingtes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das gekennzeichnet ist durch kongenitale, totale kortikale Blindheit, Intelligenzminderung, postaxiale Polydaktylie der Hände und Füße, prä- und postnatale Wachstumsverzögerung, psychomotorische Entwicklungsverzögerung und leichte Gesichtsdysmorphien (u. a. prominente Stirn, kurze Nase, langes Philtrum, hochgezogener Gaumen und Mikroretrognathie). Wiederkehrende Atemwegs- und Darminfektionen sowie mäßige Hypertonie und Hyperreflexie sind ebenfalls assoziiert. Seit 1985 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de ceguera cortical-discapacidad intelectual-polidactilia","definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas, de origen genético y poco frecuente, caracterizado por ceguera cortical total congénita, discapacidad intelectual, polidactilia postaxial de las manos y pies, retraso del crecimiento pre- y postnatal, retraso del desarrollo psicomotor y leve dismorfia facial (incluyendo frente prominente, nariz corta, filtrum largo, paladar ojival y microretrognatia). También se asocian infecciones respiratorias e intestinales recurrentes, así como hipertonía e hiperreflexia moderadas. No ha habido casos descritos en la literatura desde 1985."},"it":{"name":"Sindrome da cecità corticale, disabilità intellettiva e polidattilia","definition":"È una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da cecità corticale congenita completa, disabilità intellettiva, polidattilia postassiale delle mani e dei piedi, ritardo della crescita pre- e post-natale, ritardo dello sviluppo psicomotorio e dismorfismi facciali sfumati (fronte prominente, naso corto, filtro lungo, palato ogivale e microretrognazia). Si associa alle infezioni respiratorie e intestinali ricorrenti, e a modesta ipertonia e iperreflessia. Non sono stati descritti nuovi casi dopo il 1985."},"nl":{"name":"Corticale blindheid - intellectuele achterstand - polydactylie-syndroom","definition":"Een zeldzaam, genetisch meervoudige congenitale anomalieën/dysmorfie-syndroom gekarakteriseerd door congenitale, volledige, corticale blindheid, intellectuele achterstand, postaxiale polydactylie van de handen en voeten, pre- en postnatale groeiachterstand, psychomotorische ontwikkelingsachterstand, en milde faciale dysmorfie (inclusief prominent voorhoofd, korte neus, lang filtrum, hoog gebogen verhemelte, en microretrognathie). Recurrente respiratoire en intestinale infecties, alsook matige hypertonie en hyperreflexie, zijn eveneens geassocieerd. Sinds 1985 zijn er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de cegueira cortical-perturbação do desenvolvimento intelectual-polidactilia"},"pl":{"name":"Ślepota korowa - niepełnosprawność intelektualna - polidaktylia"},"cs":{"name":"Syndrom zahrnující kortikální slepotu, mentální retardaci a polydaktylii"},"uk":{"name":"Синдром коркової сліпоти - інтелектуальної недостатності - полідактилії","definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (incl. prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985."},"zh":{"name":"皮质盲-智力障碍-多指（趾）综合征"},"tr":{"name":"Kortikal körlük-zihinsel yetersizlik-polidaktili sendromu"}},"xrefs":[{"source":"OMIM","code":"218010","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009024","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4517339","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1548","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]},{"orpha":522508,"name":"Rare genetic ophthalmic disorder with cortical involvement","classifications":[156]},{"orpha":519343,"name":"Rare ophthalmic disorder with cortical involvement","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"4064363[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_4064363[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000649","label":"Abnormality of visual evoked potentials","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100704","label":"Cerebral visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000308","label":"Microretrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null}]}}