{"orpha":589442,"name":"Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Liberfarb syndrome"],"definition":"A rare primary bone dysplasia characterized by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-589442/","orphanet_url":"https://www.orpha.net/en/disease/detail/589442","names":{"fr":{"name":"Syndrome de petite taille-dysplasie squelettique-dégénérescence rétinienne-déficience intellectuelle-surdité neurosensorielle","synonyms":["Syndrome de Liberfarb"],"definition":"Dysplasie osseuse primaire rare caractérisée par une microcéphalie, un retard de développement et une déficience intellectuelle, une perte auditive neurosensorielle, une dégénérescence rétinienne et une dysplasie squelettique. Parmi les anomalies musculo-squelettiques figurent un retard d'ossification des épiphyses, une dysplasie spondylo-épi-métaphysaire, une petite taille, de graves déformations de la colonne vertébrale et une laxité articulaire sévère entraînant de multiples luxations des articulations."},"de":{"name":"Kleinwuchs-Skelettdysplasie-Netzhautdystrophie-Intelligenzminderung-sensorineuraler Hörverlust-Syndrom","synonyms":["Liberfarb-Syndrom"],"definition":"Eine seltene primäre Knochendysplasie, die durch Mikrozephalie, Entwicklungsverzögerung und Intelligenzminderung, sensorineurale Schwerhörigkeit, Netzhautdegeneration und Skelettdysplasie gekennzeichnet ist. Zu den muskuloskelettalen Anomalien gehören verzögerte Verknöcherung der Epiphysen, spondyloepimetaphysäre Dysplasie, Kleinwuchs, schwere Fehlbildungen der Wirbelsäule und schwere Gelenkhypermobilität, die zu multiplen Gelenkdislokationen führt."},"es":{"name":"Síndrome de talla baja-displasia esquelética-degeneración retiniana-discapacidad intelectual-hipoacusia neurosensorial","synonyms":["Síndrome de Liberfarb"],"definition":"Es una displasia ósea primaria poco frecuente caracterizada por microcefalia, retraso del desarrollo y discapacidad intelectual, hipoacusia neurosensorial, degeneración retiniana y displasia esquelética. Las anomalías musculoesqueléticas incluyen osificación tardía de las epífisis, displasia espondiloepimetafisaria, talla baja, deformidades vertebrales graves y laxitud articular grave que da lugar a múltiples luxaciones articulares."},"it":{"name":"Sindrome da bassa statura, displasia scheletrica, degenerazione retinica, disabilità intellettiva, sordità neurosensoriale","synonyms":["Sindrome di Liberfarb"]},"nl":{"name":"Kleine gestalte - skeletdysplasie - retinadegeneratie - intellectuele achterstand - sensorineuraal gehoorverlies-syndroom","synonyms":["Syndroom van Liberfarb"],"definition":"Een zeldzame primaire botdysplasie, gekenmerkt door microcefalie, ontwikkelingsachterstand en intellectuele achterstand, sensorineuraal gehoorverlies, retinadegeneratie, en skeletdysplasie. Musculoskeletale afwijkingen zijn onder meer vertraagde ossificatie van epifysen, spondylo-epimetafysaire dysplasie, kleine gestalte, ernstige deformiteiten van ruggenmerg, en ernstige gewrichtslaxiteit die resulteert in meervoudige gewrichtsluxaties."},"pt":{"name":"Síndrome de baixa estatura-displasia esquelética-degenerescência retiniana-perturbação do desenvolvimento intelectual-perda auditiva neurossensorial","definition":"Displasia óssea primária rara caracterizada por microcefalia, atraso do desenvolvimento e perturbação do desenvolvimento intelectual, défice auditivo neurossensorial, degeneração da retina e displasia esquelética. As anomalias musculoesqueléticas incluem atraso de ossificação das epífises, displasia espondiloepimetafisária, baixa estatura, deformidades graves da coluna vertebral e hipermobilidade articular grave, resultando em múltiplas luxações articulares."},"pl":{"name":"Zespół niskiego wzrostu, dysplazji szkieletowej, degeneracji siatkówki, niepełnosprawności intelektualnej i utraty słuchu czuciowo-nerwowego","synonyms":["Zespół Liberfarba"]},"cs":{"name":"Syndrom zahrnující nízký vzrůst, skeletální dysplázii, degeneraci sítnice, mentální retardaci a senzorineurální ztrátu sluchu","synonyms":["Liberfarb syndrome"]},"uk":{"name":"Синдром низькорослості-скелетної дисплазії-дегенерації сітківки-інтелектуальної недостатності-сенсоневральної приглухуватості","synonyms":["Синдром Ліберфарба"],"definition":"A rare primary bone dysplasia characterized by microcephaly, developmental delay and intellectual disability, sensorineural hearing loss, retinal degeneration, and skeletal dysplasia. Musculoskeletal abnormalities include delayed ossification of epiphyses, spondyloepimetaphyseal dysplasia, short stature, severe spinal deformities, and severe joint laxity resulting in multiple joint dislocations."},"zh":{"name":"Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome","synonyms":["Liberfarb syndrome"]},"tr":{"name":"Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome","synonyms":["Liberfarb syndrome"]}},"xrefs":[{"source":"OMIM","code":"618889","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0030045","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5394404","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":93441,"name":"Primary bone dysplasia with multiple joint dislocations","classifications":[147,156,199]},{"orpha":716405,"name":"Rare disorder with progressive generalized retinal disorder as a major feature","classifications":[156,189]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"PISD","name":"phosphatidylserine decarboxylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31263216[PMID]","hgnc":"8999","ensembl":"ENSG00000241878","omim":"612770","loci":["22q12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"30488656[PMID]_31263216[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}