Kenny-Caffey syndrome

Kenny-Caffey Syndrome is a rare genetic disorder characterized by growth retardation, cortical thickening of tubular bones, and hypocalcemia. The syndrome is divided into two types: Type 1 (KCS1) and Type 2 (KCS2).

Etiology

Kenny-Caffey Syndrome is caused by mutations in the TBCE gene (in KCS1) or the FAM111A gene (in KCS2). These genes are involved in the development and maintenance of the skeletal system and the regulation of cell division.

Clinical Features

The clinical features of Kenny-Caffey Syndrome include growth retardation, cortical thickening of tubular bones, and hypocalcemia. Other features may include microcephaly, eye abnormalities, and intellectual disability.

Diagnosis

Diagnosis of Kenny-Caffey Syndrome is based on clinical features and confirmed by genetic testing. Imaging studies may also be used to identify characteristic skeletal abnormalities.

Treatment

Treatment of Kenny-Caffey Syndrome is symptomatic and supportive. Management may include calcium and vitamin D supplementation to manage hypocalcemia, and regular monitoring of growth and development.

Prognosis

The prognosis for individuals with Kenny-Caffey Syndrome varies. Some individuals may have a normal lifespan with appropriate management, while others may experience significant health challenges.

See Also

• Genetic Disorders
• Growth Disorders
• Hypocalcemia

Kenny-Caffey syndrome Resources
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