{"orpha":353298,"name":"Roifman syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome"],"definition":"A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-353298/","orphanet_url":"https://www.orpha.net/en/disease/detail/353298","names":{"fr":{"name":"Syndrome de Roifman","synonyms":["Syndrome de dysplasie spondylo-épiphysaire-dystrophie rétinienne-déficit immunitaire","Syndrome de dysplasie spondylo-épiphysaire-dystrophie rétinienne-immunodéficience"],"definition":"Dysplasie immuno-osseuse génétique rare associée à un retard de croissance pré et post-natal, une rétinopathie, une microcéphalie, une déficience intellectuelle et des caractéristiques dysmorphiques."},"de":{"name":"Roifman-Syndrom","definition":"Eine genetisch bedingte immun-ossäre Dysplasie, die mit prä- und postnataler Wachstumsretardierung, Retinopathie, Mikrozephalie, Intelligenzminderung und dysmorphen Merkmalen einhergeht."},"es":{"name":"Síndrome de Roifman","synonyms":["Displasia espondiloepifisaria-distrofia retiniana-inmunodeficiencia"],"definition":"Es una displasia inmuno-ósea poco frecuente de origen genético asociada a retraso del crecimiento pre- y postnatal, retinopatía, microcefalia, discapacidad intelectual y rasgos dismórficos."},"it":{"name":"Sindrome di Roifman","synonyms":["Displasia spondiloepifisaria - distrofia retinica - immunodeficienza"],"definition":"Si tratta di una displasia immuno-scheletrica genetica rara, caratterizzata da ritardo della crescita pre- e postnatale, retinopatia, microcefalia, disabilità intellettiva e dismorfismi."},"nl":{"name":"Syndroom van Roifman","synonyms":["Spondylo-epifysaire dysplasie - retinale dystrofie - immuundeficiëntie-syndroom"],"definition":"Een zeldzame, genetische immuno-ossale dysplasie, geassocieerd met pre- en postnatale groeiretardatie, retinopathie, microcefalie, intellectuele achterstand, en dysmorfe kenmerken."},"pt":{"name":"Síndrome de Roifman"},"pl":{"name":"Zespół Roifmana","synonyms":["Dysplazja kręgowo-nasadowa - dystrofia siatkówki - Niedobór odporności"],"definition":"*Zespół Roifmana jest rzadką, genetycznie uwarunkowaną dysplazją układu kostnego i odpornościowego, która charakteryzuje się przed- i poporodowym opóźnieniem wzrastania, obniżeniem napięcia mięśniowego, niepełnosprawnością intelektualną od pogranicza normy do stopnia umiarkowanego, dystrofią siatkówki, dysplazją kręgowo-nasadową (dysplazja nasad, opóźnienie kostnienia nasad, zmiany w obrębie kręgów) oraz wadami szkieletowymi (brachydaktylia, klinodaktylia piątego palca). Występuje także niedobór odporności humoralnej, który charakteryzuje się brakiem zdolności do wytwarzania swoistych przeciwciał i niską liczbą krążących limfocytów B. Towarzyszy również dysmorfia twarzoczaszki, która zazwyczaj obejmuje małogłowie, hiperteloryzm, długie szpary powiekowe, wydatne rzęsy, wąski, rurkowaty, zadarty nos z hipoplastycznymi skrzydełkami, długą rynienkę podnosową i cienką górną wargę."},"cs":{"name":"Roifmanův syndrom","synonyms":["Syndrom zahrnující spondylepifyzární dysplázii, dystrofii sítnice a imunodeficienci"]},"uk":{"name":"Синдром Ройфмана","synonyms":["Синдром спондилоепіфізарної дисплазії - дистрофії сітківки - імунодефіциту"],"definition":"A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features."},"zh":{"name":"罗夫曼综合征","synonyms":["脊柱骨骺发育不良-视网膜营养不良-免疫缺陷综合征"],"definition":"Roifman综合征是一种罕见的遗传性免疫性骨发育不良疾病，其特征是出生前和出生后生长迟缓、肌张力低下、临界至中度智力障碍、视网膜营养不良、脊柱骨骺发育不良(骨骺发育不良、骨骺骨化延迟、脊椎改变)和骨骼异常(短指、五指斜指)，以及不能产生特异性抗体和低循环B细胞为特征的体液免疫缺陷。本病的典型颅面畸形包括小头畸形、眼距过宽、睑裂长、睫毛突出、狭窄管状上翘鼻伴鼻翼发育不良、人中长和上唇薄也与此有关。"},"tr":{"name":"Roifman sendromu","synonyms":["Spondiloepifizyal displazi-retinal distrofi-immün yetmezlik sendromu"]}},"xrefs":[{"source":"OMIM","code":"616651","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A01.32","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014722","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535866","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1846059","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9163","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":169349,"name":"Immuno-osseous dysplasia","classifications":[156,195]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","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":"26522830[PMID]","hgnc":"34016","ensembl":"ENSG00000264229","omim":"601428","loci":["2q14.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":17.0,"area":"Worldwide","status":"Validated","source":"16901296[PMID]_21977988[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-29","source":"10905663[PMID]_26522830[PMID]_11293748[PMID]_21910238[PMID]_10189087[PMID]","terms":[{"hpo":"HP:0004625","label":"Biconvex vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008804","label":"Broad femoral head","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008828","label":"Delayed proximal femoral epiphyseal ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002656","label":"Epiphyseal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003273","label":"Hip contracture","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410170","label":"Hippocampal atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001795","label":"Hyperconvex nail","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005041","label":"Irregular capital femoral epiphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000637","label":"Long palpebral fissure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000446","label":"Narrow nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011231","label":"Prominent eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000556","label":"Retinal dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002655","label":"Spondyloepiphyseal dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000219","label":"Thin upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000430","label":"Underdeveloped nasal alae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012817","label":"Noncompaction cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005419","label":"Decreased T cell activation","frequency":"Excluded (0%)","criteria":null}]}}