CAMFAK syndrome

Synonyms

Cataract-microcephaly-failure to thrive-kyphoscoliosis

Overview

CAMFAK syndrome (or CAMAK syndrome) is an acronym used to describe a rare inherited neurologic disease, characterized by peripheral and central demyelination of nerves, similar to that seen in Cockayne syndrome. The disease may occur with or without failure to thrive and arthrogryposis.

Symptoms

  • Failure to thrive
  • Small head
  • Cataract
  • Arthrygryposis
  • Low birth weight

Resources

  • NIH