{"orpha":64754,"name":"Nevus comedonicus syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, syndromic nevus characterized by the association of typically unilateral, closely arranged, linear, slightly elevated, multiple, nevus comedonicus lesions located usually on the face, neck, trunk or limbs (with or without a central, dark, firm, hyperkeratotic plug and secondary acneiform lesions) with extracutaneous ocular, skeletal, and/or central nervous system abnormalities, such as ipsilateral cataract, corneal erosion, poly-/syndactyly, absent fifth finger, scoliosis, vertebral defects, corpus callosum agenesis, seizures, interhemispheric cyst, intellectual deficiency, and/or developmental delay.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-64754/","orphanet_url":"https://www.orpha.net/en/disease/detail/64754","names":{"fr":{"name":"Syndrome du naevus comédonien","synonyms":["Naevus comedonicus"],"definition":"Nævus syndromique rare caractérisé par l'association de lésions généralement unilatérales, à type de nævus comédoniens multiples légèrement en relief, de disposition linéaire et rapprochée, siégeant habituellement sur le visage, le cou, le tronc ou les membres (avec ou sans bouchon hyperkératosique central, noir et ferme et lésions acnéiformes secondaires) avec des anomalies extracutanées oculaires, squelettiques et/ou du système nerveux central, telles qu'une cataracte ipsilatérale, une érosion cornéenne, une polydactylie/syndactylie, une absence d'auriculaire, une scoliose, des anomalies vertébrales, une agénésie du corps calleux, des convulsions, des kystes interhémisphériques, une déficience intellectuelle et/ou un retard de développement."},"de":{"name":"Naevus comedonicus-Syndrom","definition":"Ein seltener, syndromaler Naevus, der durch multiple, typischerweise einseitige, gruppierte, lineare und leicht erhabene Komedo-Läsionen gekennzeichnet ist, die sich in der Regel im Gesicht, am Hals, am Rumpf oder an den Gliedmaßen befinden (mit oder ohne zentralem, dunklem, festem, hyperkeratotischem Pfropf und sekundären akneiformen Läsionen). Assoziierte Manifestationen umfassen extrakutane Anomalien des Auges, des Skeletts und/oder des zentralen Nervensystems, darunter Katarakte auf der betroffenen Seite, Hornhauterosion, Poly-/Syndaktylie, Aplasie des fünften Fingers, Skoliose, Wirbeldefekte, Agenesie des Corpus callosum, Krampfanfälle, interhemisphärische Zysten, intellektuelle Beeinträchtigungen und/oder Entwicklungsverzögerungen."},"es":{"name":"Síndrome del nevus comedonicus","definition":"Es un nevus sindrómico poco frecuente caracterizado por la asociación de múltiples nevus comedonianos típicamente unilaterales, estrechamente dispuestos de forma lineal y ligeramente elevados, localizados por lo general en la cara, el cuello, el tronco o las extremidades (con o sin tapón hiperqueratósico central, oscuro y firme y lesiones acneiformes secundarias). El síndrome también se asocia a anomalías extracutáneas oculares, esqueléticas y/o del sistema nervioso central, tales como catarata ipsilateral, erosión corneal, poli- / sindactilia, ausencia del quinto dedo de la mano , escoliosis, defectos vertebrales, agenesia del cuerpo calloso, convulsiones, quistes interhemisféricos, deficiencia intelectual y/o retraso del desarrollo."},"it":{"name":"Sindrome del nevo comedonico","definition":"È un nevo raro sindromico, caratterizzato da lesioni comedoniche multiple, di solito monolaterali, raggruppate, lineari, leggermente rilevate, di solito localizzate sul viso, sul collo, sul tronco o sugli arti (con o senza chiazza centrale, scura, solida, e ipercheratosica, e lesioni acneiformi secondarie). Si associa ad anomalie extracutanee oculari, scheletriche, e/o del sistema nervoso centrale, compresa la cataratta sul lato interessato, l'erosione della cornea, la poli-/sindattilia, l'aplasia del quinto dito della mano, la scoliosi, i difetti delle vertebre, l'agenesia del corpo calloso, le crisi epilettiche, le cisti interemisferiche, il deficit intellettivo e/o il ritardo dello sviluppo."},"nl":{"name":"Nevus comedonicus-syndroom","definition":"Een zeldzame, syndromale naevus gekarakteriseerd door de associatie van typisch unilaterale, dicht bij elkaar gelegen, lineaire, licht verhoogde, multipele laesies van het type naevus comedonicus, meestal gesitueerd op het gelaat, de nek/hals, romp of ledematen (met of zonder een centrale, donkere, stevige, hyperkeratotische stop en secundaire acneïforme letsels), met extracutane afwijkingen van oog, skelet, en/of centraal zenuwstelsel, zoals ipsilateraal cataract, erosie van het hoornvlies, poly-/syndactylie, afwezige vijfde vinger, scoliose, defecten aan wervels, agenesie van het corpus callosum, insulten, interhemisferische cyste, intellectuele achterstand, en/of ontwikkelingsachterstand."},"pt":{"name":"Síndrome nevus comedonicus"},"pl":{"name":"Zespół znamienia zaskórnikowego"},"cs":{"name":"Syndrom nevus comedonicus"},"uk":{"name":"Синдром комедонального невуса","definition":"A rare, syndromic nevus characterized by the association of typically unilateral, closely arranged, linear, slightly elevated, multiple, nevus comedonicus lesions located usually on the face, neck, trunk or limbs (with or without a central, dark, firm, hyperkeratotic plug and secondary acneiform lesions) with extracutaneous ocular, skeletal, and/or central nervous system abnormalities, such as ipsilateral cataract, corneal erosion, poly-/syndactyly, absent fifth finger, scoliosis, vertebral defects, corpus callosum agenesis, seizures, interhemispheric cyst, intellectual deficiency, and/or developmental delay."},"zh":{"name":"黑头粉刺样痣综合征"},"tr":{"name":"Nevüs komedonikus sendromu"}},"xrefs":[{"source":"OMIM","code":"617025","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.5","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"LD2D.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"974520638"},{"source":"MONDO","code":"0014873","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265987","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13073","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":622914,"name":"Rare genetic nevus","classifications":[156]},{"orpha":294057,"name":"Rare nevus","classifications":[187,202]}],"children":[],"genes":[{"symbol":"NEK9","name":"NIMA related kinase 9","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"27153399[PMID]","hgnc":"18591","ensembl":"ENSG00000119638","omim":"609798","loci":["14q24.3"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_23888253[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"20542174[PMID]_23888253[PMID]","terms":[{"hpo":"HP:0025249","label":"Comedo","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010566","label":"Hamartoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003468","label":"Abnormal vertebral morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001595","label":"Abnormality of the hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006101","label":"Finger syndactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008064","label":"Ichthyosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001052","label":"Nevus flammeus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100258","label":"Preaxial polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002414","label":"Spina bifida","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003298","label":"Spina bifida occulta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001770","label":"Toe syndactyly","frequency":"Occasional (29-5%)","criteria":null}]}}