Netherton syndrome
Findings
No curated finding names Netherton syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009735), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Juvenile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
156 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal intestine morphologyHPOHP:0002242
- 1 of 1 reported patient
- Abnormal vaginal dischargeHPOHP:0034269
- 1 of 1 reported patient
- Absent eyebrowHPOHP:0002223
- 2 of 2 reported patients
- AminoaciduriaHPOHP:0003355
- 1 of 1 reported patient
- Very rare (1% to 4% of cases)
- Anaphylactic shockHPOHP:0100845
- 1 of 1 reported patient
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- Angular cheilitisHPO
Show the remaining 144
- Brittle hairHPOHP:0002299
- 17 of 17 reported patients
- Very frequent (80% to 99% of cases)
- Brittle scalp hairHPOHP:0004779
- 5 of 5 reported patients
- Caesarean sectionHPOHP:0011410
- 1 of 1 reported patient
- Capillary malformationHPOHP:0025104
- 1 of 1 reported patient
- CellulitisHPOHP:0100658
- 3 of 3 reported patients
- Chronic constipationHPOHP:0012450
- 2 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SPINK5HGNC:15464
- Definitive · G2P · Autosomal recessive · 2019
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: Netherton syndrome
- Also called
- bamboo hair syndromeComèl-Netherton syndromeIchthyosis, Netherton SyndromeNS