CAMFAK syndrome
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| CAMFAK syndrome | |
|---|---|
| Other names | Cataract-microcephaly-arthrogryposis-kyphosis syndrome, Cataract-microcephaly-failure to thrive-kyphoscoliosis syndrome |
 | |
| CAMFAK syndrome has an autosomal recessive pattern of inheritance. | |
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] The name "CAMFAK" comes from the first letters of the characteristic findings of the disease: cataracts, microcephaly, failure to thrive, and kyphoscoliosis.[2] The disease may occur with or without failure to thrive and arthrogryposis.
Presentation
[edit]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
[edit]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. 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
[edit]![[icon]](/wiki/File:Wiki_letter_w_cropped.svg){kind=small} | This section is empty. You can help by adding to it. (October 2024) |
Treatment
[edit] | This section is empty. You can help by adding to it. (July 2017) |
References
[edit]- ^ Talwar D, Smith SA (October 1989). "CAMFAK syndrome: a demyelinating inherited disease similar to Cockayne syndrome". Am. J. Med. Genet. 34 (2): 194–8. doi:10.1002/ajmg.1320340212. PMID 2554729.
- ^ a b Online Mendelian Inheritance in Man (OMIM): 212540
External links
[edit]- Talwar, Dinesh; Smith, Stephen A. (October 1989). "CAMFAK syndrome: A demyelinating inherited disease similar to Cockayne syndrome". American Journal of Medical Genetics. 34 (2): 194–198. doi:10.1002/ajmg.1320340212. PMID 2554729. Archived from the original on 10 December 2012. Retrieved 23 September 2021.