Bloom's syndrome

Last reviewed 01/2018

Bloom's syndrome is a very rare autosomal recessive disorder characterised by:

  • photosensitivity
  • facial erythema
  • telangiectasia
  • short stature
  • increased incidence of neoplasia

Chronic lung disease, diabetes mellitus, and recurrent infections are common (1).

Characteristically, telangiectasia is absent from the trunk, buttocks and lower extremities. Cafe au lait spots are common.

The erythema and telangiectasia often present within the first few week's of birth. Affected children are born at full term but are of low weight. Adults rarely exceed 1.5 m in height.

Patients have a long, narrow head with a narrow, prominent nose, relatively hypoplastic malar areas, and a receding chin. Men usually have defective sperm and are infertile. Chromosome analysis can confirm the diagnosis (1).