Woodhouse-Sakati syndrome is a disorder that primarily affects the body's network of hormone-producing glands (the endocrine system) and the nervous system. The signs and symptoms of this condition, which gradually get worse, vary widely among affected individuals, even within the same family.
Woodhouse-Sakati syndrome is caused by mutations in the DCAF17 gene. This gene provides instructions for making a protein whose function is unknown. The protein is found in several organs and tissues in the body, including the brain, skin, and liver.
Woodhouse-Sakati syndrome is a rare disorder; its prevalence is unknown. Only a few dozen affected families, mostly in the Middle East, have been described in the medical literature.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Published Date: September 01, 2016Published By: National Institutes of Health
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