Apert Synostosis
Apert Synostosis
Apert Syndrome is a rare genetic disorder characterized by premature fusion of skull bones (craniosynostosis), which affects the shape of the head and face. It also involves fusion of the fingers and toes (syndactyly) and can be associated with developmental, dental, airway, and hearing issues. Early diagnosis and multidisciplinary care are essential to support healthy development and quality of life.
What Causes Apert Syndrome?
Apert Syndrome is caused by a mutation in the FGFR2 gene (Fibroblast Growth Factor Receptor 2). This mutation causes abnormal bone growth and early fusion of the skull sutures. It occurs sporadically, often as a new genetic change, but can also be inherited in an autosomal dominant pattern.
Key Features of Apert Syndrome
Craniosynostosis
It is one of the least common types of craniosynostosis, but it often requires surgical correction to avoid lasting deformity.
Syndactyly (Fused Fingers/Toes)
Diagnosis
Apert Syndrome is diagnosed based on :
Prenatal diagnosis is possible through advanced ultrasound or genetic testing if there’s family history.
Facial & Dental Abnormalities
Developmental Concerns
Other Complications
Treatment depends on the Type and Severity
Apert Syndrome requires multidisciplinary care, including specialists in craniofacial surgery, hand surgery, ENT, pediatrics, orthodontics, and genetics.
Cranial Vault Remodeling Surgery
Performed in infancy (usually 6–12 months) to relieve pressure, allow brain growth, and improve head shape.
Prognosis
With early diagnosis and coordinated care, many children with Apert Syndrome can lead fulfilling lives. While lifelong medical support may be needed, surgical and therapeutic interventions significantly improve quality of life, function, and appearance.
Why Choose Us
for Apert Syndrome Care?