{"orpha":140936,"name":"Lelis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Ectodermal dysplasia-acanthosis nigricans syndrome"],"definition":"Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-140936/","orphanet_url":"https://www.orpha.net/en/disease/detail/140936","names":{"fr":{"name":"Syndrome de Lelis","synonyms":["Syndrome de dysplasie ectodermique-acanthosis nigricans"],"definition":"Le syndrome de Lelis est caractérisé par l'association d'une dysplasie ectodermique (hypotrichose et hypohidrose) et d'un arcanthosis nigricans."},"de":{"name":"Lelis-Syndrom","definition":"Das Lelis-Syndrom ist gekennzeichnet durch eine Assoziation von ektodermaler Dysplasie (Hypotrichose und Hypohidrose) und Akanthosis nigricans."},"es":{"name":"Síndrome de Lelis","synonyms":["Displasia ectodérmica-acantosis nigricans","Displasia ectodérmica-acantosis pigmentaria"],"definition":"El síndrome de Lelis se caracteriza por la asociación de una displasia ectodérmica (hipotricosis e hipohidrosis) y una acantosis nigricans."},"it":{"name":"Sindrome di Lelis"},"nl":{"name":"Syndroom van Lelis","synonyms":["Ectodermale dysplasie - acanthosis nigricans-syndroom"],"definition":"Een syndroom, gekenmerkt door de associatie van ectodermale dysplasie (hypotrichose en hypohidrose) met acanthosis nigricans."},"pt":{"name":"Síndrome de Lelis","definition":"A síndrome de Lelis é caracterizada pela associação de displasia ectodérmica (hipotricose e hipohidrose) com acantose nigricans."},"pl":{"name":"Zespół Lelis","synonyms":["Dysplazja ektodermalna - rogowacenie ciemne"]},"cs":{"name":"Lelisův syndrom","synonyms":["Syndrom zahrnující ektodermální dysplázii a acanthosis nigricans"]},"uk":{"name":"Синдром Леліса","synonyms":["Синдром ектодермальної дисплазії - акантоз нігтів"],"definition":"Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans."},"zh":{"name":"Lelis 综合征","synonyms":["外胚层发育不良-黑棘皮病综合征"],"definition":"Lelis综合征的特征与外胚层发育不良（稀毛症和少汗症）伴黑棘皮病相关。"},"tr":{"name":"Lelis sendromu","synonyms":["Ektodermal displazi-akantozis nigrikans sendromu"]}},"xrefs":[{"source":"OMIM","code":"608290","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"896657577"},{"source":"MONDO","code":"0012008","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564261","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1842307","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10367","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"1628512[PMID]_12457412[PMID]_18627052[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1628512[PMID]_12457412[PMID]_18627052[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-07-22","source":"12457412[PMID]","terms":[{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008070","label":"Sparse hair","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000153","label":"Abnormality of the mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000221","label":"Furrowed tongue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008404","label":"Nail dystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000972","label":"Palmoplantar hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010802","label":"Perioral hyperpigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008388","label":"Abnormal toenail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001620","label":"Abnormally high-pitched voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007646","label":"Absent lower eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000670","label":"Carious teeth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000577","label":"Exotropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000276","label":"Long face","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005338","label":"Sparse lateral eyebrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000582","label":"Upslanted palpebral fissure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001045","label":"Vitiligo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011367","label":"Yellow nails","frequency":"Occasional (29-5%)","criteria":null}]}}