{"orpha":35125,"name":"Epidermal nevus syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Epidermal hamartoma syndrome"],"definition":"Epidermal nevus syndrome (ENS) is a rare congenitally acquired syndrome, characterized by the presence of epidermal nevi in association with various developmental abnormalities of the skin, eyes, nervous, skeletal, cardiovascular and urogenital systems.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-35125/","orphanet_url":"https://www.orpha.net/en/disease/detail/35125","names":{"fr":{"name":"Syndrome du naevus épidermique","synonyms":["Syndrome de l'hamartome épidermique"],"definition":"Le syndrome du nævus épidermique (SNE) est un syndrome rare d'origine congénitale, caractérisé par la présence d'un nævus épidermique. Il est accompagné de différentes malformations de la peau, des yeux et d'anomalies de certains systèmes : nerveux, squelettique, cardiovasculaire et urogénital."},"de":{"name":"Syndrom des epidermalen Naevus","synonyms":["Syndrom des epidermalen Hamartoms"],"definition":"Das Syndrom des Epidermalen Naevus (ENS) ist ein schon kongenital manifestiertes Syndrom, charakterisiert durch die Assoziation von epidermalen Naevi mit verschiedenen Entwicklungsstörungen der Augen und des Nerven-, Skelett-, Urogenital- und kardiovaskulären Systems."},"es":{"name":"Síndrome de nevo epidérmico","synonyms":["Síndrome del hamartoma epidérmico"],"definition":"Es un síndrome poco frecuente adquirido de forma congénita que está caracterizado por la presencia de nevus epidérmicos en asociación con diversas anomalías del desarrollo de la piel, los ojos, los sistemas nervioso, esquelético, cardiovascular y urogenital."},"it":{"name":"Sindrome del nevo epidermico","synonyms":["Sindrome dell'amartoma epidermico"]},"nl":{"name":"Epidermale naevus-syndroom","synonyms":["Epidermaal hamartoom-syndroom"],"definition":"Epidermale naevus-syndroom (ENS) is een zeldzaam, congenitaal verworven syndroom, gekenmerkt door de aanwezigheid van epidermale naevi in associatie met verschillende ontwikkelingsanomalieën van huid, oog, zenuwstelsel, skelet, cardiovasculair systeem, en urogenitaal systeem."},"pt":{"name":"Síndrome do nevo epidérmico","synonyms":["Síndrome do hamartoma epidérmico"]},"pl":{"name":"Zespół znamienia naskórka","synonyms":["Zespół hamartoma naskórka"]},"cs":{"name":"Syndrom epidermálních névů","synonyms":["Syndrom epidermálních hamartomů"]},"uk":{"name":"Синдром епідермального невуса","synonyms":["Синдром епідермальної гамартоми"],"definition":"Epidermal nevus syndrome (ENS) is a rare congenitally acquired syndrome, characterized by the presence of epidermal nevi in association with various developmental abnormalities of the skin, eyes, nervous, skeletal, cardiovascular and urogenital systems."},"zh":{"name":"表皮痣综合征","synonyms":["表皮错构瘤综合征"]},"tr":{"name":"Epidermal nevüs sendromu","synonyms":["Epidermal hamartom sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q85.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LC02","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1380837135"},{"source":"MONDO","code":"0018115","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5848385","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10014985","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":622914,"name":"Rare genetic nevus","classifications":[156]},{"orpha":294057,"name":"Rare nevus","classifications":[187,202]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":400.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-08-12","source":"25928347[PMID]","terms":[{"hpo":"HP:0003764","label":"Nevus","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0006827","label":"Atrophy of the spinal cord","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007199","label":"Progressive spastic paraparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003416","label":"Spinal canal stenosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002176","label":"Spinal cord compression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012032","label":"Lipoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010302","label":"Spinal cord tumor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002944","label":"Thoracolumbar scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009077","label":"Weakness of long finger extensor muscles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004942","label":"Aortic aneurysm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100512","label":"Low levels of vitamin D","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000113","label":"Polycystic kidney dysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002859","label":"Rhabdomyosarcoma","frequency":"Very rare (<4-1%)","criteria":null}]}}