Onycho-tricho-dysplasia neutropenia syndrome

Onychotrichodysplasia - neutropenia (ONMR syndrome) is a form of trichothiodystrophy (sulfur-deficient brittle hair) characterized by hypoplastic fingernails, trichorrhexis, Chronic neutropenia, and mild psychomotor retardation.

Additional Information

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.

Organ Affected

  • Skin System (Integumentary System)
  • Also Known As

  • Trichothiodystrophy type G
  • ONMR (MIM 258360)
  • Itin syndrome
  • ONMR syndrome
  • 2332 1.27274608612