Conditions / Syndrome

Bloom syndrome

info ยท Syndrome

A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.

Signs and symptoms

  • Hepatic steatosis
  • Hypopigmentation of the skin
  • Malar rash
  • Spotty hypopigmentation
  • Elevated hemoglobin A1c
  • Facial erythema
  • Small for gestational age
  • Recurrent upper respiratory tract infections
  • Growth delay
  • Type II diabetes mellitus

Also known as: Bloom-Torre-Machacek syndrome; Congenital Telangiectatic Erythema syndrome