CAMFAK syndrome

CAMFAK syndrome is an extremely rare genetic disorder whose name is an acronym derived from its key clinical features: Cataracts, Microcephaly, Failure to thrive, Arthrogryposis, and Kyphoscoliosis. This condition affects multiple body systems, including the eyes (bilateral cataracts), the central nervous system (microcephaly with intellectual disability), the musculoskeletal system (arthrogryposis multiplex congenita, which involves multiple joint contractures present at birth, and kyphoscoliosis of the spine), and overall growth (failure to thrive and short stature). The syndrome was described in a small number of affected individuals from consanguineous families, suggesting an autosomal recessive pattern of inheritance. Additional features that have been reported include facial dysmorphism and significant developmental delay. The combination of congenital cataracts with joint contractures and microcephaly distinguishes CAMFAK syndrome from other overlapping conditions. The molecular genetic basis of this syndrome has not been fully elucidated, and no specific causative gene has been definitively established in major databases. There is currently no cure or disease-specific treatment for CAMFAK syndrome. Management is supportive and symptomatic, involving a multidisciplinary approach. This may include surgical removal of cataracts to optimize vision, orthopedic interventions and physical therapy for joint contractures and spinal deformities, nutritional support for failure to thrive, and developmental support services. Genetic counseling is recommended for affected families. Due to the extreme rarity of this condition, clinical knowledge is limited to a very small number of case reports.

Common questions about CAMFAK syndrome