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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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Contributors: Prab R. Tumpati, MD
