Kenny-Caffey syndrome

Kenny-Caffey syndrome (KCS) is a rare genetic skeletal disorder characterized by proportionate short stature (dwarfism), cortical thickening and medullary stenosis of the long bones, delayed closure of the anterior fontanelle, eye abnormalities, and episodes of hypocalcemia due to hypoparathyroidism. The condition primarily affects the skeletal system, endocrine system (parathyroid glands), and eyes. There are two recognized forms: Kenny-Caffey syndrome type 1 (KCS1, autosomal recessive, caused by mutations in the TBCE gene) and Kenny-Caffey syndrome type 2 (KCS2, autosomal dominant, caused by mutations in the FAM111A gene). KCS2 is allelic with osteocraniostenosis. Key clinical features include short stature, thickened long bone cortices with narrow medullary cavities, small hands and feet, frontal bossing, and recurrent episodes of low blood calcium (hypocalcemia) that can cause seizures, particularly in infancy and early childhood. Eye findings may include hyperopia, pseudopapilledema, and small corneas (microcornea). Some patients may also have intellectual disability, particularly in the autosomal recessive form, as well as anemia and liver involvement. Treatment is primarily supportive and symptomatic. Management of hypocalcemia is critical and typically involves calcium supplementation and active vitamin D analogs (such as calcitriol) to maintain adequate blood calcium levels and prevent seizures. Growth hormone therapy has been considered in some cases for short stature, though evidence remains limited. Regular monitoring of calcium levels, parathyroid function, and ophthalmologic evaluations are recommended. There is currently no cure for Kenny-Caffey syndrome, and long-term multidisciplinary follow-up involving endocrinology, orthopedics, ophthalmology, and genetics is essential.

Common questions about Kenny-Caffey syndrome