CAMFAK syndrome (or CAMAK syndrome) is an
acronym
An acronym is a word or name formed from the initial components of a longer name or phrase. Acronyms are usually formed from the initial letters of words, as in ''NATO'' (''North Atlantic Treaty Organization''), but sometimes use syllables, as ...
used to describe a rare inherited
neurologic
Neurology (from el, νεῦρον (neûron), "string, nerve" and the suffix -logia, "study of") is the branch of medicine dealing with the diagnosis and treatment of all categories of conditions and disease involving the brain, the spinal c ...
disease, characterized by peripheral and central
demyelination
A demyelinating disease is any disease of the nervous system in which the myelin sheath of neurons is damaged. This damage impairs the conduction of signals in the affected nerves. In turn, the reduction in conduction ability causes deficiency i ...
of nerves, similar to that seen in
Cockayne syndrome.
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, 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
Carry or carrying may refer to:
People
*Carry (name)
Finance
* Carried interest (or carry), the share of profits in an investment fund paid to the fund manager
* Carry (investment), a financial term: the carry of an asset is the gain or cost of h ...
one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
Treatment
References
External links
*
Autosomal recessive disorders
Congenital disorders
Rare syndromes
Demyelinating diseases of CNS
Genetic disorders with OMIM but no gene
{{genetic-disorder-stub