Apert syndrome

Apert syndrome (also known as acrocephalosyndactyly type I) is a rare genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis) and the fusion of fingers and toes (syndactyly). It is caused by specific gain-of-function mutations in the FGFR2 (fibroblast growth factor receptor 2) gene, located on chromosome 10. The condition is present at birth and affects multiple body systems, including the skeletal, craniofacial, and central nervous systems. The hallmark features of Apert syndrome include a tall, flat forehead with a cone-shaped skull (acrocephaly or turribrachycephaly), midface hypoplasia (underdevelopment of the middle of the face), wide-set and often bulging eyes (hypertelorism and proptosis), and symmetric complex syndactyly of the hands and feet, often described as a 'mitten-like' fusion of the digits. Many individuals have a cleft or high-arched palate. Additional findings may include hearing loss, recurrent ear infections, obstructive sleep apnea, hydrocephalus, and varying degrees of intellectual disability, though cognitive outcomes are highly variable. Skeletal anomalies such as progressive fusion of the cervical vertebrae and joint limitations in the shoulders and elbows may also occur. Management of Apert syndrome requires a coordinated multidisciplinary approach involving craniofacial surgeons, neurosurgeons, ophthalmologists, ENT specialists, orthopedic surgeons, and developmental specialists. Early surgical intervention is typically needed to address craniosynostosis and relieve intracranial pressure, with staged craniofacial reconstructive surgeries often performed throughout childhood. Surgical separation of the fused digits is performed to improve hand function. Midface advancement surgery (such as Le Fort III osteotomy or distraction osteogenesis) may be required to address airway obstruction and improve facial appearance. Ongoing monitoring for hydrocephalus, hearing loss, dental anomalies, and developmental progress is essential. While there is no cure, early and comprehensive treatment can significantly improve quality of life and functional outcomes.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Apert syndrome