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Netherton syndrome
rareNetherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.
- Identifiers
- MONDO:0009735 OMIM:256500Orphanet:634
- Causal genes
- SPINK5
- Part of
- Autosomal recessive diseaseEye disorderHyper-IgE syndromeInherited ichthyosisSyndromic disease
- Also known as
- bamboo hair syndrome · Comèl-Netherton syndrome · Ichthyosis, Netherton Syndrome · neth · NS
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