CAMFAK syndrome

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CAMFAK syndrome
Classification and external resources
OMIM 212540
DiseasesDB 33725

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.

[edit] 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.

[edit] Genetics

CAMFAK syndrome has an autosomal recessive pattern of inheritance.
CAMFAK syndrome has an autosomal recessive pattern of inheritance.

Inheritance is thought to be autosomal recessive.

[edit] External links

v • d • e
Pathology of the nervous system, primarily CNS (G00-G47, 320-349)
Inflammatory diseases
of the CNS
Systemic atrophies
primarily affecting the CNS
Extrapyramidal and
movement disorders
Other degenerative/
demyelinating diseases
Seizure/epilepsy
Headache
Vascular
Sleep disorders
Intracranial hypertension
Other encephalopathy
Other spinal cord disease
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