From Wikipedia, the free encyclopedia

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.^[1]

Presentation

The name "CAMFAK" comes from the first letters of the characteristic findings of the disease: cataracts, microcephaly, failure to thrive, and kyphoscoliosis. The disease may occur with or without failure to thrive and arthrogryposis. Low birth weight and a bird-like face may be the first signs. Severe intellectual deficit and death within the first decade are typical.

Genetics

CAMFAK syndrome has an autosomal recessive pattern of inheritance.

Inheritance is thought to be autosomal recessive.

References

External links

• Wiley InterScience Journal
• CAMFAK syndrome at NIH's Office of Rare Diseases
• Overview at Orphanet