Synonym(s): - Bamboo hair syndrome - Comèl-Netherton syndrome - NS
Classification (Orphanet): - Rare eye disease - Rare genetic disease - Rare skin disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
SPINK5	Q9NQ38	605010

- Acanthosis nigricans
- Asthma / bronchospasm
- Autosomal recessive inheritance
- Brittle hair / distrix / trichorrhexis
- Eczema
- Fine hair
- Hair and scalp anomalies
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Ichthyosis / ichthyosiform dermatitis
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Irregular / in bands / reticular skin hyperpigmentation
- Malabsorption / chronic diarrhea / steatorrhea
- Severe allergic reaction / atopy
- Urticaria

- Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency
- Emphysema
- Repeat respiratory infections
- Seizures / epilepsy / absences / spasms / status epilepticus

- Absent / decreased / thin eyebrows
- Aminoacid metabolism anomalies / aminoaciduria
- Cutaneous rash
- Dehydration / hydroelectrolytic loss
- Dry / squaly skin / exfoliation
- Ectopic / horseshoe / fused kidneys
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Immunodeficiency / increased susceptibility to infections / recurrent infections
- Megaureter / hydronephrosis / pyeloureteral junction syndrome
- Short stature / dwarfism / nanism