{"orpha":50811,"name":"Lipodystrophy-intellectual disability-deafness syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Lipodystrophy-intellectual disability-hearing loss syndrome","Rajab-Spranger syndrome"],"definition":"A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-50811/","orphanet_url":"https://www.orpha.net/en/disease/detail/50811","names":{"fr":{"name":"Syndrome de lipodystrophie-déficience intellectuelle-surdité","synonyms":["Syndrome de Rajab-Spranger"],"definition":"Forme rare de lipodystrophie génétique rapportée à ce jour chez 3 patients issus d'une même famille, caractérisée par une lipodystrophie congénitale généralisée, un faible poids à la naissance, une surdité neurosensorielle progressive survenant dans l'enfance, une déficience intellectuelle, une ostéopénie progressive, un retard de maturation du squelette, des anomalies squelettiques à type d'os tubulaires fins et déminéralisés et de stries métaphysaires denses à l'extrémité distale du fémur, du cubitus et du radius chez les patients plus âgés. La transmission serait autosomique récessive."},"de":{"name":"Lipodystrophie-Intelligenzminderung-Schwerhörigkeit-Syndrom","synonyms":["Rajab-Spranger-Syndrom"],"definition":"Das Rajab-Spranger-Syndrom wurde bei 3 Patienten aus 1 Familie beschrieben. Es vereint eine generalisierte angeborene Lipodystrophie, geringes Geburtsgewicht, in früher Kindheit schon fortschreitende Schallempfindungs-Schwerhörigkeit, Intelligenzminderung und eine Reihe von Skelettanomalien: verschlankte, schlecht mineralisierte Röhrenknochen, verzögerte Skelettreifung, und und dichte metaphysäre Streifen im distalen Oberschenkelknochen, in der Elle und im Radius älterer Patienten. Es wird eine autosomal-rezessive Vererbung vermutet."},"es":{"name":"Síndrome de lipodistrofia-discapacidad intelectual-sordera","synonyms":["Síndrome de Rajab-Spranger","Síndrome de lipodistrofia-discapacidad intelectual-hipoacusia"],"definition":"El síndrome de lipodistrofia-deficiencia intelectual-sordera es una forma extremadamente rara de lipodistrofia genética (consulte este término), descrito en tres pacientes de una misma familia hasta la fecha y caracterizado por lipodistrofia congénita generalizada, bajo peso al nacer, sordera neurosensorial progresiva que se da en la infancia, deficiencia intelectual, osteopenia progresiva, maduración esquelética retrasada, anomalías óseas descritas como huesos tubulares gráciles, poco mineralizados, y estrías metafisarias densas en el fémur distal, cúbito y radio en pacientes de edades más avanzadas. Se ha sugerido una herencia autosómica recesiva."},"it":{"name":"Lipodistrofia - ritardo mentale - sordità","synonyms":["Sindrome di Rajab-Spranger"],"definition":"La sindrome lipodistrofia-disabilità cognitiva-sordità è una forma molto rara di lipodistrofia genetica (si veda questo termine) descritta in tre pazienti appartenenti alla stessa famiglia. E' caratterizzata da lipodistrofia congenita, scarso peso alla nascita, sordità neurosensoriale progressiva ad esordio nell'infanzia, deficit cognitivo, osteopenia progressiva, ritardo della maturazione scheletrica, anomalie scheletriche, comprese le ossa tubolari sottili e scarsamente mineralizzate e le striature metafisarie dense nel femore distale, nell'ulna e nel radio nei pazienti più anziani. È stata ipotizzata una trasmissione autosomica recessiva."},"nl":{"name":"Lipodystrofie - intellectuele achterstand - doofheid-syndroom","synonyms":["Lipodystrofie - intellectuele achterstand - gehoorverlies-syndroom","Syndroom van Rajab-Spranger"],"definition":"Lipodystrofie - intellectuele achterstand - doofheid-syndroom is een uiterst zeldzame vorm van genetische lipodystrofie (zie deze term), die tot op heden werd gerapporteerd in 3 patiënten van één familie, en die wordt gekarakteriseerd door gegeneraliseerde congenitale lipodystrofie, laag geboortegewicht, progressieve sensorineurale doofheid in de kindertijd, intellectuele beperking, progressieve osteopenie, vertraagde maturatie van het skelet, skeletafwijkingen omschreven als slanke en onvoldoende gemineraliseerde pijpbeenderen, en dense metafysaire striaties op de distale femur, ulna en radius van oudere patiënten. Overerving gebeurt vermoedelijk autosomaal recessief."},"pt":{"name":"Síndrome de lipodistrofia-perturbação do desenvolvimento intelectual-surdez","synonyms":["Síndrome Rajab-Spranger","Síndrome de lipodistrofia-perturbação do desenvolvimento intelectual-perda auditiva"]},"pl":{"name":"Lipodystrofia - niepełnosprawność intelektualna - głuchota","synonyms":["Zespół Rajaba i Sprangera"]},"cs":{"name":"Syndrom zahrnující lipodystrofii, mentální retardaci a hluchotu","synonyms":["Rajabové-Sprangerův syndrom","Rajab-Sprangerův syndrom"]},"uk":{"name":"Синдром ліподистрофії-інтелектуальної недостатності-глухоти","synonyms":["Синдром ліподистрофії-інтелектуальної недостатності- втрати слуху","Синдром Раджаба-Спренджера"],"definition":"A rare form of genetic lipodystrophy, reported in 3 patients from one family to date, characterized by generalized congenital lipodystrophy, low birth weight, progressive sensorineural deafness occurring in childhood, intellectual deficit, progressive osteopenia, delayed skeletal maturation, skeletal abnormalities described as slender, undermineralized tubular bones, and dense metaphyseal striations in the distal femur, ulna and radius of older patients. Autosomal recessive inheritance has been suggested."},"zh":{"name":"脂肪代谢异常-智力残疾-耳聋综合征","synonyms":["脂质营养不良-智力障碍-听力丧失综合征"]},"tr":{"name":"Lipodistrofi-zihinsel yetersizlik-sağırlık sendromu","synonyms":["Rajab-Spranger sendromu","Lipodistrofi-zihinsel yetersizlik-işitme kaybı sendromu"]}},"xrefs":[{"source":"OMIM","code":"608154","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E88.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"876248189"},{"source":"MONDO","code":"11976","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302920","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":98305,"name":"Genetic lipodystrophy","classifications":[156,187,193]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":363245,"name":"Genetic progeroid syndrome","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":93447,"name":"Primary bone dysplasia with defective bone mineralization","classifications":[147,156,199]},{"orpha":139033,"name":"Progeroid syndrome","classifications":[147]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":93440,"name":"Slender bone dysplasia","classifications":[147,156,199]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"12923870[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_12923870[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"12923870[PMID]","terms":[{"hpo":"HP:0100959","label":"Dense metaphyseal bands","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009064","label":"Generalized lipodystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005328","label":"Progeroid facial appearance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001533","label":"Slender build","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004993","label":"Slender long bones with narrow diaphyses","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Very frequent (99-80%)","criteria":null}]}}