What is Kenny-Caffey Syndrome

Kenny-Caffey Syndrome is a rare genetic disorder that affects bone development and growth. It is characterized by a combination of skeletal abnormalities and hypoparathyroidism, which is the underproduction of parathyroid hormone.

Skeletal abnormalities: Individuals with Kenny-Caffey Syndrome typically have short stature, small hands and feet, and thickened long bones. The bones may also be abnormally dense and show delayed bone age.

Hypoparathyroidism: This condition leads to low levels of calcium in the blood, resulting in symptoms such as muscle cramps, seizures, and numbness or tingling in the hands and feet.

Kenny-Caffey Syndrome is usually diagnosed in infancy or early childhood. It is caused by mutations in the TBCE gene, which plays a role in bone development. The inheritance pattern can be autosomal dominant or autosomal recessive, depending on the specific mutation.

Treatment for Kenny-Caffey Syndrome focuses on managing the symptoms. This may involve calcium and vitamin D supplementation to address hypoparathyroidism, as well as growth hormone therapy to promote growth in affected individuals.