{"orpha":2772,"name":"Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare multiple congenital malformations/dysmorphic syndrome characterized by osteogenesis imperfecta with multiple prenatal bone fractures, joint laxity, severe microcephaly, and bilateral cataracts. Additional reported manifestations include dysmorphic facial features (such as blue sclerae, hypertelorism, and low-set ears), lissencephaly, hydrocephalus, and cardiac and genital anomalies. The syndrome is lethal <i>in utero</i> or shortly after birth. There have been no further descriptions in the literature since 1978.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2772/","orphanet_url":"https://www.orpha.net/en/disease/detail/2772","names":{"fr":{"name":"Syndrome d'ostéogenèse imparfaite-microcéphalie-cataracte","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par une ostéogenèse imparfaite associée à de multiples fractures osseuses en période prénatale, une laxité articulaire, une microcéphalie sévère et une cataracte bilatérale. Parmi les autres manifestations rapportées figurent une dysmorphie faciale (sclérotiques bleues, hypertélorisme, oreilles d'implantation basse), une lissencéphalie, une hydrocéphalie et des anomalies cardiaques et génitales. Le syndrome est létal <i>in utero</i> ou juste après la naissance. Aucun cas n'a été décrit dans la littérature depuis 1978."},"de":{"name":"Osteogenesis imperfecta-Mikrozephalie-Katarakt-Syndrom","definition":"Ein seltenes Fehlbildungssyndrom mit multiplen kongenitalen Dysmorphien, gekennzeichnet durch Osteogenesis imperfecta mit multiplen pränatalen Frakturen, Hypermobilität der Gelenke, schwerer Mikrozephalie und beidseitigem Katarakt. Darüber hinaus werden Gesichtsdysmorphien (z. B. blaue Skleren, Hypertelorismus und tiefsitzende Ohren), Lissenzephalie, Hydrozephalus sowie kardiale und genitale Anomalien beschrieben. Das Syndrom verläuft in utero oder kurz nach der Geburt tödlich. Seit 1978 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de osteogénesis imperfecta-microcefalia-cataratas","definition":"Es un síndrome dismórfico/ con múltiples malformaciones congénitas, poco frecuente, caracterizado por osteogénesis imperfecta con múltiples fracturas óseas prenatales, laxitud articular, microcefalia grave y cataratas bilaterales. Otras manifestaciones descritas son rasgos faciales dismórficos (como escleróticas azules, hipertelorismo y orejas de implantación baja), lisencefalia, hidrocefalia y anomalías cardíacas y genitales. El síndrome es letal en el útero o poco después del nacimiento. No ha habido más casos descritos en la literatura desde 1978."},"it":{"name":"Sindrome osteogenesi imperfetta congenita-microcefalia-cataratta","definition":"Si tratta di una malattia congenita rara da malformazioni/dismorfismi congeniti multipli, caratterizzata da osteogenesi imperfetta con fratture ossee multiple in epoca prenatale, lassità articolare, microcefalia grave e cataratta bilaterale. I pazienti possono presentare anche dismorfismi facciali (sclere blu, ipertelorismo e orecchie a basso impianto), lissencefalia, idrocefalo, cardiopatie e anomalie dei genitali. La malattia è letale <i>in utero</i> o subito dopo la nascita. Non sono stati descritti nuovi casi dopo il 1978."},"nl":{"name":"Congenitale osteogenesis imperfecta - microcefalie - cataracten-syndroom","definition":"Een zeldzaam syndroom met multipele congenitale malformaties/dysmorfie, gekenmerkt door osteogenesis imperfecta met meervoudige prenatale botfracturen, gewrichtslaxiteit, ernstige microcefalie, en bilateraal cataract. Bijkomend gerapporteerde manifestaties zijn onder meer dysmorfe gelaatskenmerken (zoals blauwe sclerae, hypertelorisme, en laagstaande oren), lissencefalie, hydrocefalie, en cardiale en genitale anomalieën. Het syndroom is letaal <i>in utero</i> of kort na de geboorte. Sinds 1978 verschenen er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de osteogenesis imperfecta congénita-microcefalia-cataratas"},"pl":{"name":"Wrodzona łamliwość kości - małogłowie - zaćma"},"cs":{"name":"Syndrom zahrnující osteogenesis imperfecta, mikrocefalii a kataraktu"},"uk":{"name":"Синдром вродженого недосконалого остеогенезу - мікроцефалії - катаракти","definition":"A rare multiple congenital malformations/dysmorphic syndrome characterized by osteogenesis imperfecta with multiple prenatal bone fractures, joint laxity, severe microcephaly, and bilateral cataracts. Additional reported manifestations include dysmorphic facial features (such as blue sclerae, hypertelorism, and low-set ears), lissencephaly, hydrocephalus, and cardiac and genital anomalies. The syndrome is lethal <i>in utero</i> or shortly after birth. There have been no further descriptions in the literature since 1978."},"zh":{"name":"先天性成骨不全-小头畸形-白内障综合征"},"tr":{"name":"Doğumsal osteogenezis imperfekta-mikrosefali-katarakt sendromu"}},"xrefs":[{"source":"OMIM","code":"259410","qualifier":"E","icd_relation":null,"validated":true},{"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":"2117592710"},{"source":"MONDO","code":"0009803","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537558","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850184","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93446,"name":"Primary bone dysplasia with decreased bone density","classifications":[147,156,199]},{"orpha":519296,"name":"Rare disorder with pigmented sclera","classifications":[156,189]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"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":"728577[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_728577[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008873","label":"Disproportionate short-limb short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005474","label":"Decreased calvarial ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001195","label":"Single umbilical artery","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}