{"orpha":357225,"name":"Primary non-essential cutis verticis gyrata","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic dermis disorder characterized by slowly progressive thickening of the scalp, which becomes raised and forms ridges and furrows with symmetrical distribution resembling the cerebral gyri and cannot be flattened by traction or pressure, associated with ophthalmologic (e.g. congenital cataract) and/or neurological abnormalities (e.g. intellectual disability, epilepsy, microcephaly, encephalopathy).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-357225/","orphanet_url":"https://www.orpha.net/en/disease/detail/357225","names":{"fr":{"name":"Pachydermie vorticellée primaire non essentielle du cuir chevelu","synonyms":["Pachydermie plicaturée primaire non essentielle du cuir chevelu"],"definition":"Anomalie rare du derme, d'origine génétique, caractérisée par un épaississement lentement progressif du cuir chevelu (lui conférant une apparence en relief avec stries et sillons de répartition symétrique semblables aux gyri du cortex cérébral) qui ne peut être aplati par traction ou pression, en association avec des anomalies ophtalmologiques (cataracte congénitale) et/ou neurologiques (déficience intellectuelle, épilepsie, microcéphalie, encéphalopathie)."},"de":{"name":"Primäre Cutis verticis gyrata, nicht-essentielle"},"es":{"name":"Cutis verticis gyrata primaria no esencial","definition":"Es un trastorno de la dermis, genético y poco frecuente, caracterizado por un engrosamiento del cuero cabelludo de curso lentamente progresivo, que da lugar a unos surcos y pliegues con una distribución simétrica semejante a las circunvoluciones cerebrales y que no se puede aplanar por tracción o presión. Se asocia con anomalías oculares (p. ej., catarata congénita) y/o anomalías neurológicas (tales como discapacidad intelectual, epilepsia, microcefalia, encefalopatía)."},"it":{"name":"Cutis verticis gyrata primitiva non essenziale","definition":"La cutis verticis gyrata primitiva non essenziale è una malattia dermatologica genetica rara, caratterizzata dall'ispessimento a progressione lenta del cuoio capelluto, che si solleva formando creste e solchi distribuiti in maniera simmetrica, che ricordano le circonvoluzioni cerebrali e che non è possibile appiattire con la trazione o la pressione. I pazienti possono presentare anomalie oculari (cataratta congenita) e/o neurologiche (disabilità intellettiva, epilessia, microcefalia, encefalopatia)."},"nl":{"name":"Primaire niet-essentiële cutis verticis gyrata","definition":"Primaire niet-essentiële cutis verticis gyrata is een zeldzame, genetische stoornis van de dermis, en wordt gekarakteriseerd door traag progressieve verdikking van de hoofdhuid, die verheven wordt en randen en groeven vormt met een symmetrische verdeling lijkend op de hersenwindingen en die niet kan afgevlakt worden door tractie of druk, geassocieerd met oftalmologische (e.g. congenitaal cataract) en/of neurologische afwijkingen (e.g. intellectuele achterstand, epilepsie, microcefalie, encefalopathie)."},"pt":{"name":"Cutis verticis gyrata, não-essencial primária"},"pl":{"name":"Pierwotna łagodna skóra kręta ciemienia","definition":"*Pierwotna skóra kręta ciemienia jest rzadką, genetycznie uwarunkowaną chorobą skóry właściwej, która charakteryzuje się powolnym, postępującym zgrubieniem skóry głowy. Skóra głowy unosi się, tworząc wypukłości oraz bruzdy o symetrycznym rozmieszczeniu, przypominające zakręty mózgowe. Nie można ich wygładzić poprzez naciąganie lub ucisk. Towarzyszą wady narządu wzroku (np. zaćma wrodzona) i/lub zaburzenia układu nerwowego (np. niepełnosprawność intelektualna, padaczka, małogłowie, encefalopatia)."},"cs":{"name":"Primární neesenciální cutis verticis gyrata"},"uk":{"name":"Первинна невиражена складчаста пахідермія","definition":"A rare genetic dermis disorder characterized by slowly progressive thickening of the scalp, which becomes raised and forms ridges and furrows with symmetrical distribution resembling the cerebral gyri and cannot be flattened by traction or pressure, associated with ophthalmologic (e.g. congenital cataract) and/or neurological abnormalities (e.g. intellectual disability, epilepsy, microcephaly, encephalopathy)."},"zh":{"name":"原发性非原位性脑回状头皮","definition":"原发性非必须回状颅皮是一种罕见的遗传性真皮疾病，以头皮缓慢进行性增厚为特征，头皮变得隆起，形成类似于大脑回的对称分布的脊和沟，不能通过牵引或压力变平，并与眼科(如先天性白内障)和/或神经异常(如智力障碍、癫痫、小头畸形、脑病)有关。"},"tr":{"name":"Primer esansiyel olmayan cutis verticis gyrata"}},"xrefs":[{"source":"OMIM","code":"219300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"EE7Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"129937701"},{"source":"MONDO","code":"0018168","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4755295","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1557,"name":"Cutis verticis gyrata-intellectual disability syndrome","status":"inactive"},{"type":"Moved to","orpha":79482,"name":"Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome","status":"inactive"},{"type":"Moved to","orpha":217315,"name":"Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome","status":"inactive"}],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":477808,"name":"Other genetic dermis disorder","classifications":[156]},{"orpha":671,"name":"Primary cutis verticis gyrata","classifications":[187]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Adolescent","Childhood","Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-11-07","source":"17535195[PMID]_30969634[PMID]_16955199[PMID]","terms":[{"hpo":"HP:0010541","label":"Cutis gyrata of scalp","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030455","label":"Abnormality of pattern visual evoked potentials","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000290","label":"Abnormality of the forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000519","label":"Developmental cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002171","label":"Gliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006889","label":"Intellectual disability, borderline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006970","label":"Periventricular leukomalacia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010562","label":"Keloids","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null}]}}