CAMFAK syndrome (or CAMAK syndrome) is an

acronym An acronym is a type of abbreviation consisting of a phrase whose only pronounced elements are the initial letters or initial sounds of words inside that phrase. Acronyms are often spelled with the initial Letter (alphabet), letter of each wor ...

used to describe a rare inherited neurologic disease, characterized by peripheral and central demyelination of nerves, similar to that seen in

Cockayne syndrome Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight ( photo ...

. 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 Arthrogryposis (AMC) describes congenital joint contracture in two or more areas of the body. It derives its name from Greek, literally meaning 'curving of joints' (', 'joint'; ', late Latin form of late Greek ', 'hooking'). Children born with one ...

Presentation

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 is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an

autosome An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes ...

, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

Diagnosis

Treatment

References

External links

* {{Demyelinating diseases of CNS Autosomal recessive disorders Congenital disorders Rare syndromes Demyelinating diseases of CNS Genetic disorders with OMIM but no gene