[1] The name "CAMFAK" comes from the first letters of the characteristic findings of the disease: cataracts, microcephaly, failure to thrive, and kyphoscoliosis.

Low birth weight and a bird-like face may be the first signs.

Severe intellectual deficit and death within the first decade are typical.

CAMFAK syndrome is inherited in an autosomal recessive manner.

[2] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder.