{"orpha":2773,"name":"Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Al Gazali-Nair syndrome"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2773/","orphanet_url":"https://www.orpha.net/en/disease/detail/2773","names":{"fr":{"name":"Syndrome d'ostéogenèse imparfaite-rétinopathie-épilepsie-déficience intellectuelle","synonyms":["Syndrome d'Al Gazali-Nair"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par un retard de développement global sévère, une ostéogenèse imparfaite, la présence d'os wormiens, des crises d'épilepsie, des anomalies oculaires (sclérotiques bleues, atrophie optique, décollement de la rétine) et une dysmorphie faciale (front proéminent, ligne capillaire frontale basse, sourcils fournis dans la partie médiane, longs cils, hypertélorisme, pont nasal déprimé, grandes oreilles d'implantation basse). Aucun cas n'a été décrit dans la littérature depuis 1994."},"de":{"name":"Osteogenesis imperfecta-Retinopathie-Krämpfe-Intelligenzminderung-Syndrom","synonyms":["Al Gazali-Nair-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch eine schwere globale Entwicklungsverzögerung, Osteogenesis imperfecta, das Vorhandensein von Wormschen Knochen, Krampfanfälle, Augenanomalien (blaue Skleren, Optikusatrophie, Netzhautablösung) und Gesichtsdysmorphien (u. a. Balkonstirn, niedriger vorderer Haaransatz, medialer Anstieg der Augenbrauen, lange Wimpern, Hypertelorismus, abgesenkter Nasenrücken und tief angesetzte, große Ohren) gekennzeichnet ist. Seit 1994 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de osteogénesis imperfecta-retinopatía-crisis-discapacidad intelectual","synonyms":["Síndrome de Al Gazali-Nair"],"definition":"Es un síndrome dismórfico/ de anomalías congénitas múltiples caracterizado por un grave retraso global del desarrollo, osteogénesis imperfecta, presencia de huesos wormianos, crisis, anomalías oculares (esclerótica azul, atrofia óptica, desprendimiento de retina), y rasgos faciales dismórficos (incluyendo frente prominente, línea anterior de implantación del cabello baja, ensanchamiento medial de las cejas, pestañas largas, hipertelorismo, puente nasal deprimido y orejas grandes y de implantación baja). No ha habido más descripciones en la literatura desde 1994."},"it":{"name":"Sindrome osteogenesi imperfetta-retinopatia-crisi epilettiche-disabilità intellettiva","synonyms":["Sindrome di Al Gazali-Nair"],"definition":"Si tratta di una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da grave ritardo dello sviluppo globale, osteogenesi imperfetta, ossa wormiane, crisi epilettiche, anomalie oculari (sclere blu, atrofia ottica, distacco della retina) e dismorfismi facciali (fronte bombata, attaccatura bassa dei capelli sulla fronte, sopracciglia rade nella porzione mediana, ciglia lunghe, ipertelorismo, sella nasale infossata, orecchie grandi e a basso impianto). Non sono stati descritti nuovi casi dopo il 1994."},"nl":{"name":"Osteogenesis imperfecta - retinopathie - epileptische aanvallen - intellectuele achterstand-syndroom","synonyms":["Syndroom van Al Gazali-Nair"],"definition":"Een zeldzaam syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door ernstige algehele ontwikkelingsachterstand, osteogenesis imperfecta, aanwezigheid van Wormiaanse botstructuren, insulten, ooganomalieën (blauwe sclerae, opticusatrofie, netvliesloslating), en dysmorfe gelaatskenmerken (waaronder boller voorhoofd, lage voorste haarlijn, mediale verbreding van wenkbrauwen, lange wimpers, hypertelorisme, ingezakte neusbrug, en laagstaande en grote oren). Sinds 1994 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de osteogenese imperfeita-retinopatia-convulsões-perturbação do desenvolvimento intelectual","synonyms":["Síndrome Al Gazali-Nair"]},"pl":{"name":"Łamliwość kości - retinopatia - napady padaczkowe - niepełnosprawność intelektualna","synonyms":["Zespół Al Gazali i Naira"]},"cs":{"name":"Syndrom zahrnující osteogenesis imperfecta, retinopatii, záchvaty a mentální retardaci","synonyms":["Al Gazaliové-Nairův syndrom","Al Gazali-Nairův syndrom"]},"uk":{"name":"Синдром недосконалого остеогенезу - ретинопатії - судом - інтелектуальної недостатності","synonyms":["Синдром Аль-Газалі-Наїра"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, osteogenesis imperfecta, presence of wormian bones, seizures, ocular abnormalities (blue sclerae, optic atrophy, retinal detachment), and dysmorphic facial features (including frontal bossing, low anterior hairline, medial flare of the eyebrows, long eyelashes, hypertelorism, depressed nasal bridge, and low-set, large ears). There have been no further descriptions in the literature since 1994."},"zh":{"name":"成骨不全-视网膜病变-癫痫-智力障碍综合征","synonyms":["Al Gazali-Nair综合征"]},"tr":{"name":"Osteogenezis imperfekta-retinopati-nöbetler-zihinsel yetersizlik sendromu","synonyms":["Al Gazali-Nair sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.KY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1914053882"},{"source":"MONDO","code":"0017196","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302824","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"587","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"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":93446,"name":"Primary bone dysplasia with decreased bone density","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"7515752[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7515752[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002645","label":"Wormian bones","frequency":"Very frequent (99-80%)","criteria":null}]}}