ORPHA:634
Netherton syndrome
Synonyms: Bamboo hair syndrome · Comèl-Netherton syndrome · NS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Netherton syndrome | Bamboo hair syndrome · Comèl-Netherton syndrome · NS |
| fr | Syndrome de Netherton | NS · Syndrome de Comèl-Netherton · Syndrome des cheveux bambous |
| de | Netherton-Syndrom | Bambushaar-Syndrom · Comèl-Netherton-Syndrom · NS |
| es | Síndrome de Netherton | SN · Síndrome de Comèl-Netherton · Síndrome de los cabellos de bambú |
| it | Sindrome di Netherton | NS · Sindrome dei capelli a bambù · Sindrome di Comèl-Netherton |
| nl | Syndroom van Netherton | Bamboehaarsyndroom · NS · Syndroom van Comèl-Netherton |
| pt | Síndrome Netherton | NS · Síndrome Comèl-Netherton · Síndrome de cabelo de bambu |
| pl | Zespół Nethertona | NS · Zespół bambusowych włosów · Zespół Comèla i Nethertona |
| cs | Nethertonův syndrom | NS · Erythroderma ichthyosiforme congenitum · Syndrom bambusových vlasů · Comèlův-Nethertonův syndrom · Comèl-Nethertonův syndrom |
| uk | Синдром Нетертона | Синдром бамбукового волосся · Синдром Комеля-Нетертона · NS |
| zh | Netherton综合征 | Comèl-Netherton综合征 |
| tr | Netherton sendromu | NS · Bambu saç sendromu · Comèl-Netherton sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 256500 | E | validated | |
| ICD-10 | Q80.8 | NTBT | attributed | validated |
| ICD-11 | LD27.2 | NTBT | index | validated |
| MONDO | 0009735 | E | validated | |
| MeSH | D056770 | E | validated | |
| UMLS | C5574950 | E | validated | |
| GARD | 7182 | E | validated | |
| MedDRA | 10062909 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:281222Autosomal ichthyosis syndrome with prominent hair abnormalities
rare genetic diseases; rare skin diseases - ORPHA:331223Hyper-IgE syndrome
rare genetic diseases; rare immunological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SPINK5 | Disease-causing germline mutation(s) in | Assessed | HGNC:15464 | ENSG00000133710 | 605010 | 5q32 | serine peptidase inhibitor Kazal type 5 | 10835624[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | 0.5 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
44 annotations · validated 2026-06-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003328 | Abnormal hairshaft morphology | |
| HP:0001047 | Atopic dermatitis | |
| HP:0002299 | Brittle hair | |
| HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0010783 | Erythema | |
| HP:0002213 | Fine hair | |
| HP:0500093 | Food allergy | |
| HP:0025114 | Hypergranulosis | |
| HP:0000962 | Hyperkeratosis | |
| HP:0100326 | Immunologic hypersensitivity | |
| HP:0003212 | Increased circulating IgE concentration | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0000989 | Pruritus | |
| HP:0002719 | Recurrent infections | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0000988 | Skin rash | |
| HP:0045075 | Sparse eyebrow | |
| HP:0002209 | Sparse scalp hair | |
| HP:0025811 | Trichorrhexis invaginata | Pathognomonic sign |
| Frequent (79-30%) | ||
| HP:0000956 | Acanthosis nigricans | |
| HP:0002099 | Asthma | |
| HP:0025809 | Generalized scaling | |
| HP:0001263 | Global developmental delay | |
| HP:0025810 | Ichthyosis linearis circumflexa | |
| HP:0001880 | Increased total eosinophil count | |
| HP:0003777 | Pili torti | |
| HP:0000653 | Sparse eyelashes | |
| HP:0009886 | Trichorrhexis nodosa | |
| Occasional (29-5%) | ||
| HP:0100665 | Angioedema | |
| HP:0002028 | Chronic diarrhea | |
| HP:0012475 | Decreased circulating level of specific antibody | |
| HP:0000958 | Dry skin | |
| HP:0002097 | Emphysema | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0004906 | Hypernatremic dehydration | |
| HP:0001249 | Intellectual disability | |
| HP:0002024 | Malabsorption | |
| HP:0004322 | Short stature | |
| HP:0001025 | Urticaria | |
| Very rare (<4-1%) | ||
| HP:0007418 | Alopecia totalis | |
| HP:0003355 | Aminoaciduria | |
| HP:0040187 | Neonatal sepsis | |
| HP:0008069 | Neoplasm of the skin | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 40899446[PMID]_27905021[PMID]_40899446[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/634
- This record as JSON: /data/d/634.json