{"orpha":634,"name":"Netherton syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Bamboo hair syndrome","Comèl-Netherton syndrome","NS"],"definition":"Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-634/","orphanet_url":"https://www.orpha.net/en/disease/detail/634","names":{"fr":{"name":"Syndrome de Netherton","synonyms":["NS","Syndrome de Comèl-Netherton","Syndrome des cheveux bambous"],"definition":"Le syndrome de Netherton (SN) est une maladie cutanée caractérisée par une érythrodermie ichtyosiforme congénitale (CIE), une anomalie capillaire caractéristique (trichorrhexie invaginata, TI) et des manifestations atopiques."},"de":{"name":"Netherton-Syndrom","synonyms":["Bambushaar-Syndrom","Comèl-Netherton-Syndrom","NS"],"definition":"Das Netherton-Syndrom (NS) ist eine Hautkrankheit. Charakteristische Symptome sind kongenitale ichthyosiforme Erythrodermie (CIE), ein distinkter Defekt des Haarschaftes (Trichorrhexis invaginata; TI) und Atopiesymptome."},"es":{"name":"Síndrome de Netherton","synonyms":["SN","Síndrome de Comèl-Netherton","Síndrome de los cabellos de bambú"],"definition":"El síndrome de Netherton (SN) es un trastorno de la piel caracterizado por: eritrodermia ictiosiforme congénita (EIC), una anomalía capilar característica (tricorrexis invaginada; TI) y manifestaciones atópicas."},"it":{"name":"Sindrome di Netherton","synonyms":["NS","Sindrome dei capelli a bambù","Sindrome di Comèl-Netherton"]},"nl":{"name":"Syndroom van Netherton","synonyms":["Bamboehaarsyndroom","NS","Syndroom van Comèl-Netherton"],"definition":"Syndroom van Netherton (NS) is een huidaandoening, gekarakteriseerd door congenitale ichthyosiforme erytrodermie (CIE), een typisch defect van haarschacht (trichorrhexis invaginata; TI), en atopische manifestaties."},"pt":{"name":"Síndrome Netherton","synonyms":["NS","Síndrome Comèl-Netherton","Síndrome de cabelo de bambu"]},"pl":{"name":"Zespół Nethertona","synonyms":["NS","Zespół bambusowych włosów","Zespół Comèla i Nethertona"]},"cs":{"name":"Nethertonův syndrom","synonyms":["NS","Erythroderma ichthyosiforme congenitum","Syndrom bambusových vlasů","Comèlův-Nethertonův syndrom","Comèl-Nethertonův syndrom"]},"uk":{"name":"Синдром Нетертона","synonyms":["Синдром бамбукового волосся","Синдром Комеля-Нетертона","NS"],"definition":"Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations."},"zh":{"name":"Netherton综合征","synonyms":["Comèl-Netherton综合征"]},"tr":{"name":"Netherton sendromu","synonyms":["NS","Bambu saç sendromu","Comèl-Netherton sendromu"]}},"xrefs":[{"source":"OMIM","code":"256500","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q80.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1797493665"},{"source":"MONDO","code":"0009735","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D056770","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5574950","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7182","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10062909","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":281222,"name":"Autosomal ichthyosis syndrome with prominent hair abnormalities","classifications":[156,187]},{"orpha":331223,"name":"Hyper-IgE syndrome","classifications":[156,195]}],"children":[],"genes":[{"symbol":"SPINK5","name":"serine peptidase inhibitor Kazal type 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"10835624[PMID]","hgnc":"15464","ensembl":"ENSG00000133710","omim":"605010","loci":["5q32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2026-06-08","source":"40899446[PMID]_27905021[PMID]_40899446[PMID]","terms":[{"hpo":"HP:0003328","label":"Abnormal hairshaft morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001047","label":"Atopic dermatitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002299","label":"Brittle hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007479","label":"Congenital nonbullous ichthyosiform erythroderma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002213","label":"Fine hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0500093","label":"Food allergy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025114","label":"Hypergranulosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000962","label":"Hyperkeratosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100326","label":"Immunologic hypersensitivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003212","label":"Increased circulating IgE concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007400","label":"Irregular hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000989","label":"Pruritus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002719","label":"Recurrent infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002788","label":"Recurrent upper respiratory tract infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025811","label":"Trichorrhexis invaginata","frequency":"Very frequent (99-80%)","criteria":"Pathognomonic sign"},{"hpo":"HP:0000956","label":"Acanthosis nigricans","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025809","label":"Generalized scaling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025810","label":"Ichthyosis linearis circumflexa","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003777","label":"Pili torti","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000653","label":"Sparse eyelashes","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009886","label":"Trichorrhexis nodosa","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100665","label":"Angioedema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002028","label":"Chronic diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012475","label":"Decreased circulating level of specific antibody","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002097","label":"Emphysema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004906","label":"Hypernatremic dehydration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007418","label":"Alopecia totalis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003355","label":"Aminoaciduria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040187","label":"Neonatal sepsis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Very rare (<4-1%)","criteria":null}]}}