{"orpha":488627,"name":"Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-gray sclerae, and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly, or arachnoid cysts.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-488627/","orphanet_url":"https://www.orpha.net/en/disease/detail/488627","names":{"fr":{"name":"Syndrome de retard de croissance sévère-strabisme-mélanocytose dermique congénitale-déficience intellectuelle","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare avec déficience intellectuelle caractérisé par l'apparition infantile d'un retard global de développement, d'une déficience intellectuelle sévère, d'un retard de croissance, d'une microcéphalie, d'un strabisme, de sclérotiques bleu-grisâtre et de taches mongoloïde extensives. Certains patients manifestent également une épilepsie. L'IRM peut mettre en évidence des anomalies variables, notamment une atrophie cérébrale, un corps calleux mince, une ventriculomégalie ou des kystes arachnoïdiens."},"de":{"name":"Schwere Wachstumsstörung-Strabismus-extensive dermale Melanozytose-Intelligenzminderung-Syndrom","definition":"Ein seltenes kindliches Fehlbildungssyndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das gekennzeichnet ist durch eine globale Entwicklungsverzögerung, schwere Intelligenzminderung, Wachstumsstörungen, Mikrozephalie, Strabismus, blaugraue Skleren und ausgedehnte mongolische Flecken. Einige Patienten leiden auch an Epilepsie. Die Bildgebung des Gehirns kann unterschiedliche Anomalien zeigen, darunter zerebrale Atrophie, dünnes Corpus callosum, Ventrikulomegalie oder Arachnoidalzysten."},"es":{"name":"Síndrome de deficiencia grave del crecimiento-estrabismo-melanocitosis dérmica extensa-discapacidad intelectual","definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas y discapacidad intelectual poco frecuente. Se caracteriza por la aparición en la lactancia de retraso global del desarrollo, discapacidad intelectual grave, deficiencia del crecimiento, microcefalia, estrabismo, esclerótica azul grisácea y extensas manchas mongólicas. Algunos pacientes también presentan epilepsia. Las imágenes cerebrales pueden mostrar anomalías variables que incluyen atrofia cerebral, adelgazamiento del cuerpo calloso, ventriculomegalia o quistes aracnoideos."},"it":{"name":"Sindrome grave ritardo della crescita-strabismo-estesa melanocitosi dermica -disabilità intellettiva","definition":"Si tratta di una malattia rara da anomalie/dismorfismi congeniti multipli associata alla disabilità intellettiva, che esordisce nella prima infanzia con ritardo dello sviluppo globale, grave disabilità intellettiva, ritardo della crescita, microcefalia, strabismo, sclere grigio-blu e macchie mongoliche estese. Alcuni pazienti presentano epilessia. Le neuroimmagini evidenziano anomalie variabili, che comprendono l'atrofia cerebrale, l'assottigliamento del corpo calloso, la ventricolomegalia e le cisti aracnoidee."},"nl":{"name":"Ernstige groeiachterstand - strabisme - extensieve dermale melanocytose - intellectuele achterstand-syndroom","definition":"Een zeldzaam multipele congenitale anomalieën/dysmorfie-syndroom met intellectuele achterstand, gekarakteriseerd door infantiele aanvang van algehele ontwikkelingsachterstand, ernstige intellectuele beperking, groeideficiëntie, microcefalie, strabisme, blauwgrijze sclerae, en uitgebreide archipelvlekken. Sommige patiënten presenteren zich ook met epilepsie. Beeldvorming van hersenen toont mogelijk variabele afwijkingen, waaronder cerebrale atrofie, dun corpus callosum, ventriculomegalie, of arachnoïdale cysten."},"pt":{"name":"Síndrome de atraso do crescimento grave-estrabismo-melanocitose dérmica extensa-perturbação do desenvolvimento intelectual"},"pl":{"name":"Zespół znacznego niedoboru wzrostu, zeza, nasilonej melanocytozy skórnej i niepełnosprawności intelektualnej"},"cs":{"name":"Syndrom zahrnující těžký růstový deficit, strabizmus, rozsáhlou dermální melanocytózu a mentální retardaci"},"uk":{"name":"Синдром тяжкої затримки росту-косоокості-екстенсивного меланоцитозу шкіри-інтелектуальної недостатності","definition":"A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-gray sclerae, and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly, or arachnoid cysts."},"zh":{"name":"严重的生长发育缺陷-斜视-广泛的皮肤黑素细胞增多症-智力障碍综合征","definition":"是一种罕见的多发性先天性异常/畸形综合征，伴有智力障碍，其特点是婴儿期开始出现全面发育迟缓、重度智力障碍、生长发育不良、小头畸形、斜视、蓝灰色巩膜、大面积胎斑。部分患者还出现癫痫。脑影像学检查可显示不同的异常，包括脑萎缩、胼胝体薄、脑室扩大或蛛网膜囊肿。"},"tr":{"name":"Ağır büyüme eksikliği-şaşılık-yaygın dermal melanositoz-zihinsel yetersizliksendromu"}},"xrefs":[{"source":"OMIM","code":"617051","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014886","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567481","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183466,"name":"Genetic hyperpigmentation of the skin","classifications":[156]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":79375,"name":"Hyperpigmentation of the skin","classifications":[187]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[{"symbol":"PUS3","name":"pseudouridine synthase 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27055666[PMID]","hgnc":"25461","ensembl":"ENSG00000110060","omim":"616283","loci":["11q24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"27055666[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27055666[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-13","source":"30697592[PMID]_30308082[PMID]_27055666[PMID]","terms":[{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007334","label":"Bilateral tonic-clonic seizure with focal onset","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012213","label":"Decreased glomerular filtration rate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002187","label":"Intellectual disability, profound","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007052","label":"Multifocal cerebral white matter abnormalities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000253","label":"Progressive microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001344","label":"Absent speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100702","label":"Arachnoid cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100814","label":"Blue nevus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000961","label":"Cyanosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006989","label":"Dysplastic corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001290","label":"Generalized hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002079","label":"Hypoplasia of the corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006956","label":"Lateral ventricle dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040329","label":"Multifocal hyperintensity of cerebral white matter on MRI","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002193","label":"Pseudobulbar behavioral symptoms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001970","label":"Tubulointerstitial nephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002367","label":"Visual hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null}]}}