Woodhouse Sakati syndrome

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Woodhouse Sakati syndrome (pronunciation: wood-house sah-kah-tee syndrome) is a rare genetic disorder characterized by a variety of symptoms including endocrine abnormalities, dystonia, alopecia, and intellectual disability.

Etymology

The syndrome is named after the two doctors, M. A. Woodhouse and A. Sakati, who first described the condition in 1983.

Symptoms and Signs

Woodhouse Sakati syndrome is characterized by a variety of symptoms. The most common include:

  • Endocrine abnormalities: These can include hypogonadism, which is a condition where the body does not produce enough sex hormones, and diabetes mellitus, a condition characterized by high blood sugar levels over a prolonged period.
  • Dystonia: This is a movement disorder in which a person's muscles contract uncontrollably.
  • Alopecia: This is a condition that causes hair to fall out in small patches.
  • Intellectual disability: This is a term used when a person has certain limitations in mental functioning and in skills such as communicating, taking care of him or herself, and social skills.

Causes

Woodhouse Sakati syndrome is caused by mutations in the DCAF17 gene. This gene provides instructions for making a protein that is involved in several important cellular functions.

Diagnosis

Diagnosis of Woodhouse Sakati syndrome is based on the presence of characteristic clinical findings. Genetic testing can confirm the diagnosis.

Treatment

Treatment of Woodhouse Sakati syndrome is symptomatic and supportive. This can include hormone replacement therapy for endocrine abnormalities, physical therapy for dystonia, and special education services for intellectual disability.

See Also

External links

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