{"orpha":139,"name":"CHILD syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CHILD nevus","Congenital hemidysplasia with ichthyosiform erythroderma and limb defects"],"definition":"A rare developmental defect during embryogenesis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-139/","orphanet_url":"https://www.orpha.net/en/disease/detail/139","names":{"fr":{"name":"Syndrome CHILD","synonyms":["Naevus CHILD","Syndrome d'hémidysplasie congénitale-érythrodermie ichtyosiforme-anomalies des membres"],"definition":"Anomalie rare du développement embryonnaire caractérisée par des lésions cutanées unilatérales squameuses et inflammatoires, accompagnées d'anomalies ipsilatérales des membres et des viscères."},"de":{"name":"CHILD-Syndrom","synonyms":["CHILD-Naevus","Kongenitale Hemidysplasie mit ichthyosiformen Naevus und Gliedmaßendefekten"],"definition":"Eine seltene Entwicklungsstörung während der Embryogenese, gekennzeichnet durch einseitige entzündliche und schuppende Hautläsionen mit ipsilateralen viszeralen und Gliedmaßenanomalien."},"es":{"name":"Síndrome CHILD","synonyms":["Hemidisplasia congénita con eritrodermia ictiosiforme y defectos en las extremidades","Nevo CHILD"],"definition":"Es un trastorno poco frecuente del desarrollo durante la embriogénesis caracterizado por lesiones cutáneas unilaterales descamativas e inflamatorias con anomalías viscerales y de las extremidades ipsilaterales."},"it":{"name":"Sindrome CHILD","synonyms":["Emidisplasia congenita con eritroderma ittiosiforme e anomalie degli arti","Nevo CHILD"],"definition":"La sindrome CHILD (CS), emidisplasia congenita con nevi ittiosiformi e difetti degli arti, è una genodermatosi dominante legata all'X con lesioni cutanee desquamative infiammatorie monolaterali, e anomalie ipsilaterali viscerali e degli arti."},"nl":{"name":"CHILD-syndroom","synonyms":["CHILD-naevus","Congenitale hemidysplasie met ichthyosiforme erytrodermie en ledemaatdefecten"],"definition":"Een zeldzaam ontwikkelingsdefect tijdens embryogenese, gekenmerkt door unilaterale inflammatoire en schilferende huidlaesies met ipsilaterale viscerale anomalieën en ledemaatanomalieën."},"pt":{"name":"Síndrome CHILD","synonyms":["Hemidisplasia congénita com eritrodermia ictiosiforme e anomalias dos membros","Nevus CHILD"],"definition":"Patologia rara do desenvolvimento durante a embriogénese, caracterizada por lesões cutâneas inflamatórias e descamativas unilaterais, com anomalias viscerais e dos membros ipsilaterais."},"pl":{"name":"Zespół CHILD","synonyms":["Wrodzona hemidysplazja ze znamionami w postaci rybiej łuski i wadami kończyn","Znamię CHILD"]},"cs":{"name":"CHILD syndrom","synonyms":["CHILD névus","Vrozená hemidysplázie s ichtiosiformními névy a defekty končetin"]},"uk":{"name":"Синдром CHILD","synonyms":["Невус CHILD","Вроджена гемодисплазія з іхтіозиформною еритродермією та дефектами кінцівок"],"definition":"A rare developmental defect during embryogenesis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies."},"zh":{"name":"CHILD综合征","synonyms":["先天性偏侧发育不良伴鱼鳞病样痣及肢体缺陷"]},"tr":{"name":"CHILD sendromu","synonyms":["CHILD nevüs","İktiyoziform nevüs ve ekstremite defektleri ile seyreden doğumsal hemidisplazi"]}},"xrefs":[{"source":"OMIM","code":"308050","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.04","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1946716835"},{"source":"MONDO","code":"0010621","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562515","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265267","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6039","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10081963","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93442,"name":"Chondrodysplasia punctata","classifications":[147,156,199]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]},{"orpha":622914,"name":"Rare genetic nevus","classifications":[156]},{"orpha":294057,"name":"Rare nevus","classifications":[187,202]},{"orpha":79195,"name":"Sterol biosynthesis disorder","classifications":[147,150,156]},{"orpha":281210,"name":"X-linked ichthyosis syndrome","classifications":[156,187]}],"children":[],"genes":[{"symbol":"NSDHL","name":"NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10710235[PMID]_11907515[PMID]","hgnc":"13398","ensembl":"ENSG00000147383","omim":"300275","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked dominant"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":60.0,"area":"Worldwide","status":"Validated","source":"20929975[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-12-30","source":"29939590[PMID]_21290788[PMID]","terms":[{"hpo":"HP:0010655","label":"Epiphyseal stippling","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100803","label":"Abnormality of the periungual region","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045060","label":"Aplasia/hypoplasia involving bones of the extremities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007431","label":"Congenital ichthyosiform erythroderma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008394","label":"Congenital onychodystrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025092","label":"Epidermal acanthosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001036","label":"Parakeratosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010049","label":"Short metacarpal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031517","label":"Verruciform xanthoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009827","label":"Amelia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003651","label":"Foam cells","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002011","label":"Morphological central nervous system abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002828","label":"Multiple joint contractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012165","label":"Oligodactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004552","label":"Scarring alopecia of scalp","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010442","label":"Polydactyly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001159","label":"Syndactyly","frequency":"Very rare (<4-1%)","criteria":null}]}}