De Barsy syndrome

De Barsy syndrome (also known as De Barsy-Moens-Dierckx syndrome or progeroid syndrome of De Barsy) is an extremely rare autosomal recessive disorder characterized by a distinctive combination of cutis laxa (loose, wrinkled, inelastic skin), a progeroid (prematurely aged) appearance, corneal clouding, and intellectual disability. The condition is caused by mutations in the PYCR1 gene (or in some cases the ALDH18A1 gene), which are involved in proline metabolism, a process essential for connective tissue integrity. The syndrome is typically apparent at birth or in early infancy. The disease affects multiple body systems. Skin manifestations include generalized cutis laxa giving a wrinkled, aged appearance even in infancy. Ophthalmologic features include corneal opacities or corneal clouding and sometimes cataracts. Neurological involvement includes intellectual disability of variable severity, hypotonia, and in some cases movement abnormalities such as athetosis. Skeletal abnormalities may include short stature, joint hypermobility, and osteoporosis. Affected individuals may also have intrauterine growth restriction and postnatal growth retardation. Facial features are often described as distinctive, with a large fontanelle, prominent forehead, and small face with a thin nose. There is currently no cure or specific treatment for De Barsy syndrome. Management is supportive and multidisciplinary, focusing on addressing individual symptoms. This may include ophthalmologic interventions for corneal clouding, physical therapy for hypotonia and motor delays, developmental support for intellectual disability, and dermatologic care. Regular monitoring by specialists in genetics, ophthalmology, neurology, and orthopedics is recommended. Life expectancy and long-term prognosis vary depending on the severity of organ involvement.

Common questions about De Barsy syndrome