{"orpha":352333,"name":"Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome","ELOVL4-related neuro ichthyosis"],"definition":"A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-352333/","orphanet_url":"https://www.orpha.net/en/disease/detail/352333","names":{"fr":{"name":"Syndrome d'ichtyose congénitale-déficience intellectuelle-quadriplégie spastique","synonyms":["Neuro-ichthyose associé à ELOVL4","Syndrome d'ichtyose congénitale-déficience intellectuelle-tétraplégie spastique"],"definition":"Ichtyose syndromique autosomique rare avec signes neurologiques prédominants, caractérisée par l'association d'une ichtyose congénitale avec un retard global de développement, une déficience intellectuelle, des crises convulsives à début infantile et une tétraplégie spastique. L'imagerie cérébrale peut mettre en évidence un retard de myélinisation et une atrophie cérébrale. Une importante variabilité intrafamiliale a été rapportée."},"de":{"name":"Kongenitale Ichthyose-Intelligenzminderung-spastische Tetraplegie-Syndrom","synonyms":["ELOVL4-assoziierte Neuro-Ichtyose"],"definition":"Eine seltene syndromale Ichthyose mit auffälligen neurologischen Symptomen, die durch eine Kombination von kongenitaler Ichthyose mit globaler Entwicklungsverzögerung, Intelligenzminderung, Krämpfen in der Kindheit und spastischer Tetraplegie gekennzeichnet ist. Die zerebrale Bildgebung kann eine verzögerte Myelinisierung und eine zerebrale Atrophie zeigen. Eine ausgeprägte intrafamiliäre Variabilität wurde berichtet."},"es":{"name":"Síndrome de ictiosis congénita-discapacidad intelectual-cuadriplejía espástica","synonyms":["Neuroictiosis asociada al gen ELOVL4","Síndrome de ictiosis congénita-discapacidad intelectual-tetraplejía espástica"],"definition":"Es un síndrome de ictiosis autosómico poco frecuente con signos neurológicos prominentes caracterizado por la asociación de ictiosis congénita con retraso global del desarrollo, discapacidad intelectual, crisis de inicio en el periodo de lactancia y tetraplejía espástica. La neuroimagen puede mostrar retraso de la mielinización y atrofia cerebral. Se ha descrito una marcada variabilidad intrafamiliar."},"it":{"name":"Sindrome da ittiosi congenita-disabilità intellettiva-quadriplegia spastica","synonyms":["Neuro-ittiosi correlata a ELOVL4","Sindrome da ittiosi congenita-disabilità intellettiva-tetraplegia spastica","Sindrome da ittiosi congenita-disabilità intellettiva-tetraplegia spastica"],"definition":"Si tratta di un'ittiosi autosomica rara con segni neurologici, caratterizzata da ittiosi congenita associata ad un ritardo dello sviluppo globale, disabilità intellettiva, crisi epilettiche ad esordio infantile e tetraplegia spastica. Le neuroimmagini evidenziano un ritardo della mielinizzazione e atrofia cerebrale. La variabilità intrafamiliare è marcata."},"nl":{"name":"Congenitale ichthyosis - intellectuele achterstand - spastische quadriplegie-syndroom","synonyms":["Congenitale ichthyosis - intellectuele achterstand - spastische tetraplegie-syndroom","ELOVL4-gerelateerde neuro-ichthyosis"],"definition":"Een zeldzaam autosomaal ichthyosis-syndroom met prominente neurologische verschijnselen, gekenmerkt door de associatie van congenitale ichthyosis met algehele ontwikkelingsachterstand, intellectuele achterstand, infantiel optredende insulten, en spastische tetraplegie. Beeldvorming van hersenen toont mogelijk vertraagde myelinisatie en cerebrale atrofie. Er werd opmerkelijke intrafamiliale variabiliteit gerapporteerd."},"pt":{"name":"Síndrome de ictiose congénita-perturbação do desenvolvimento inteletual-tetraplegia espástica","synonyms":["Neuro-ictiose ELOVL4-relacionada"],"definition":"Síndrome de ictiose autossómica rara com sinais neurológicos proeminentes, caracterizada pela associação de ictiose congénita com atraso global do desenvolvimento, perturbação do desenvolvimento intelectual, convulsões de início infantil e tetraplegia espástica. A imagiologia cerebral pode evidenciar atraso na mielinização e atrofia cerebral. Foi descrita acentuada variabilidade intrafamiliar."},"pl":{"name":"Zespół rybiej łuski wrodzonej, niepełnosprawności intelektualnej i kwadriplegii spastycznej","synonyms":["Zespół rybiej łuski wrodzonej, niepełnosprawności intelektualnej i tetraplegii spastycznej","Zespół wrodzonej rybiej łuski-niepełnosprawności intelektualnej-spastycznego porażenia czterokończynowego"]},"cs":{"name":"Syndrom zahrnující vrozenou ichtyózu, mentální retardaci a spastickou kvadruplegii","synonyms":["Syndrom zahrnující vrozenou ichtyózu, omezení intelektu a spastickou tetraplegii"]},"uk":{"name":"Синдром вродженого іхтіозу-інтелектуальної недостатності-спастичної квадриплегії","synonyms":["Синдром вродженого іхтіозу - інтелектуальної недостатності - спастичної тетраплегії","Нейроіхтіоз, повязаний з ELOVL4"],"definition":"A rare autosomal ichthyosis syndrome with prominent neurologic signs characterized by the association of congenital ichthyosis with global developmental delay, intellectual disability, infantile-onset seizures, and spastic tetraplegia. Brain imaging may show delayed myelination and cerebral atrophy. Marked intrafamilial variability has been reported."},"zh":{"name":"先天性鱼鳞癣-智力障碍-痉挛性四肢瘫痪综合征","synonyms":["Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome"]},"tr":{"name":"Doğumsal iktiyoz-zihinsel yetersizlik-spastik kuadripleji sendromu","synonyms":["Doğumsal iktiyoz-zihinsel yetersizlik-spastik tetrapleji sendromu"]}},"xrefs":[{"source":"OMIM","code":"614457","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.2","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0013760","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3280856","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":281238,"name":"Autosomal ichthyosis syndrome with prominent neurologic signs","classifications":[156,187]},{"orpha":352306,"name":"Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"ELOVL4","name":"ELOVL fatty acid elongase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22100072[PMID]","hgnc":"14415","ensembl":"ENSG00000118402","omim":"605512","loci":["6q14.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"22100072[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}