Cooks syndrome

Cooks Syndrome is a rare genetic disorder characterized by abnormalities of the hands and feet, and eye abnormalities. The syndrome was first described by Cooks et al. in 1985.

Symptoms and Signs

The main symptoms of Cooks Syndrome include:

• Anonychia: Absence of nails on the fingers and toes.
• Hypoplastic thumbs: Underdeveloped thumbs.
• Syndactyly: Fusion of two or more fingers or toes.
• Cataract: Clouding of the lens in the eye.
• Microphthalmia: Abnormally small eyes.

Causes

Cooks Syndrome is a genetic disorder. It is believed to be inherited in an autosomal recessive manner, 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.

Diagnosis

Diagnosis of Cooks Syndrome is based on the presence of the characteristic signs and symptoms. Genetic testing may be used to confirm the diagnosis.

Treatment

Treatment of Cooks Syndrome is symptomatic and supportive. This may include surgical correction of hand and foot abnormalities, and treatment of eye abnormalities.

Prognosis

The prognosis for individuals with Cooks Syndrome is generally good. With appropriate treatment, most individuals with the condition are able to lead normal lives.

See Also

• List of genetic disorders
• List of rare diseases

References

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External Links

• Orphanet: Cooks Syndrome

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