{"orpha":1824,"name":"Lowry-Wood syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Epiphyseal dysplasia-microcephaly-nystagmus syndrome"],"definition":"A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1824/","orphanet_url":"https://www.orpha.net/en/disease/detail/1824","names":{"fr":{"name":"Syndrome de Lowry-Wood","synonyms":["Syndrome de dysplasie épiphysaire-microcéphalie-nystagmus"],"definition":"Le syndrome de Lowry-Wood est caractérisé par une association de dysplasie épiphysaire, de petite taille, de microcéphalie et, dans les premiers cas rapportés, de nystagmus congénital. A ce jour, moins de 10 cas ont été décrits dans la littérature. Des degrés variables de déficit intellectuel ont également étés signalés. Occasionnellement, une rétinite pigmentaire et une coxa vara peuvent survenir. La transmission semble être autosomique récessive."},"de":{"name":"Lowry-Wood-Syndrom","synonyms":["Dysplasie, epiphysäre - Mikrozephalie - Nystagmus"],"definition":"Das Lowry-Wood-Syndrom ist gekennzeichnet durch die Assoziation von epiphysärer Dysplasie, Kleinwuchs und Mikrozephalie. Bei den zuerst beschriebenen Fällen bestand auch ein Nystagmus. Bisher sind weniger als 10 Fälle bekannt geworden. Weitere Symptome sind unterschiedlich starkes intellektuelles Defizit und, in einigen Fällen, Retinitis pigmentosa und Coxa vara. Wahrscheinlich wird das Syndrom autosomal-rezessiv vererbt."},"es":{"name":"Síndrome de Lowry-Wood","synonyms":["Displasia epifisaria-microcefalia-nistagmo"],"definition":"Es un trastorno poco frecuente caracterizado por la asociación de displasia epifisaria, talla baja, microcefalia y, en los primeros casos descritos, nistagmo congénito. Se han descrito menos de 10 casos en la literatura hasta la actualidad. Se ha observado déficit intelectual de grado variable. Otros hallazgos ocasionales incluyen retinosis pigmentaria y coxa vara. La transmisión de este síndrome parece ser autosómica recesiva."},"it":{"name":"Displasia epifisaria - microcefalia - nistagmo","synonyms":["Sindrome di Lowry-Wood"]},"nl":{"name":"Syndroom van Lowry-Wood","synonyms":["Epifysaire dysplasie - microcefalie - nystagmus-syndroom"],"definition":"Een zeldzame aandoening gekarakteriseerd door de associatie van epifysaire dysplasie, kleine gestalte, microcefalie en, in de eerst gerapporteerde gevallen, congenitale nystagmus. Tot op heden werden minder dan 10 gevallen beschreven in de literatuur. Variabele gradaties van intellectuele achterstand werden ook gerapporteerd. Andere occasionele kenmerken zijn retinitis pigmentosa en coxa vara. Overerving lijkt autosomaal recessief te gebeuren."},"pt":{"name":"Síndrome Lowry-Wood","synonyms":["Displasia epifisária-microcefalia-nistagmo"]},"pl":{"name":"Zespół Lowry'ego i Wooda","synonyms":["Dysplazja nasadowa - małogłowie - zez"]},"cs":{"name":"Lowryho-Woodův syndrom","synonyms":["Syndrom zahrnující epifyzární dysplázii, mikrocefalii a nystagmus","Lowry-Woodův syndrom"]},"uk":{"name":"Синдром Лоурі-Вуда","synonyms":["Синдром епіфізарної дисплазії-мікроцефалії-ністагму"],"definition":"A rare disorder characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive."},"zh":{"name":"Lowry-Wood综合征","synonyms":["骨骺发育不良-小头畸形-眼球震颤综合征"]},"tr":{"name":"Lowry-Wood sendromu","synonyms":["Epifizyal displazi-mikrosefali-nistagmus sendromu"]}},"xrefs":[{"source":"OMIM","code":"226960","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.6Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1713071905"},{"source":"MONDO","code":"0009191","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537038","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796021","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"264","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10062600","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":93429,"name":"Multiple epiphyseal dysplasia and pseudoachondroplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"RNU4ATAC","name":"RNA, U4atac small nuclear","gene_type":"Non-coding RNA","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29265708[PMID]","hgnc":"34016","ensembl":"ENSG00000264229","omim":"601428","loci":["2q14.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"12605445[PMID]_19288552[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12605445[PMID]_19288552[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002656","label":"Epiphyseal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010582","label":"Irregular epiphyses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002812","label":"Coxa vara","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100643","label":"Abnormality of nail color","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003083","label":"Dislocated radial head","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002999","label":"Patellar dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000926","label":"Platyspondyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}