Wednesday, June 12, 2024
HomeDermatologyCockayne Syndrome

Cockayne Syndrome


Cockayne syndrome
is a rare autosomal recessive (see diagram below), heterogeneous, multisystem disorder characterized by dwarfism, progressive pigmentary retinopathy, birdlike facies, and photosensitivity. The syndrome is divided into two subtypes. Cockayne syndrome I, or classic Cockayne syndrome, presents in childhood with characteristic facies and somatic features that occur late in the first decade of life. Cockayne syndrome II, or severe Cockayne syndrome, presents at birth with accelerated facial and somatic features. Individuals who are affected with Cockayne syndrome I typically have progressive neurologic degeneration with death occurring by the second or third decade of life, whereas patients with Cockayne syndrome II typically die by age 6-7 years.

Autosomal recessive inheritance pattern.

Autosomal recessive inheritance pattern.

Also see the pediatrics article, Cockayne Syndrome.

Previous articleGrowth Failure
Next articleSimple Prostatectomy
- Advertisment -

Most Popular