CAMFAC
CAMFAC Causes
Inheriting the disease is said to be autosomal recessive, which is a mode of inheritance of genetic traits located on the autosomes. Autosomes are pairs of non-sex determining chromosomes in humans.
CAMFAC Definition
CAMFAK syndrome or CAMAK syndrome is only an acronym used to describing a rare and inherited neurological disease. It is characterized by peripheral and central demyelization of nerves, similar to that seen in Cockayne syndrome. The name "CAMFAK" is derived from the first letters of the characteristic findings of the disease: cataracts, microcephaly, failure to thrive, and kyphoscoliosis. However, the disease may also occur with or without failure to thrive and arthrogryposis. Among the first signs of the disease are low birth weight and a bird-like face. It is also typical for persons with CAMFAC to be intellectually deficit. Death may even occur within the first decade. Listed as a rare disease by the Office of Rare Disease (ORD) of the National Institutes of Health (NIH), CAMFAK syndrome only affects less than 200,000 people in the US population.
CAMFAC Treatment
For those at risk for cataract, surgery may treat the condition. The procedure is the removal of the clouded lens in the eyes and replaces it with a clear, plastic lens. Surgeries such as this are very effective in restoring vision and are one of the most common procedures performed in the United States.