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Onycho-tricho-dysplasia - neutropenia

Orpha number ORPHA2739
Synonym(s) Itin syndrome
ONMR syndrome
Trichothiodystrophy type G
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10 -
OMIM
UMLS
  • C1850316
MeSH -
MedDRA -
SNOMED CT -

Summary

Onychotrichodysplasia - neutropenia (ONMR syndrome) is a form of trichothiodystrophy (sulfur-deficient brittle hair) characterized by hypoplastic fingernails, trichorrhexis, chronic neutropenia, and mild psychomotor retardation. The patients suffer recurrent infections, which may be responsible for their mild psychomotor retardation. Less than ten cases have been reported. It is an autosomal recessive disorder, due to a deficiency in sulfur-rich proteins. Polarizing light examination of hair shows dark and light banding and electron microscopy reveals an absent cuticle.

Expert reviewer(s)

  • Dr Carmen CANTISANI
  • Dr Alfredo ROSSI

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