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

  • Premature fusion of the coronal sutures leads to a short, tall, and broad skull (turribrachycephaly).

  • Prominent or bulging forehead

  • Midface hypoplasia (underdeveloped midface)

It is one of the least common types of craniosynostosis, but it often requires surgical correction to avoid lasting deformity.

Syndactyly (Fused Fingers/Toes)

  • Varying degrees of fusion between fingers and toes

  • “Mitten-hand” appearance due to fusion of bones and soft tissue

  • May require surgical separation for function

Diagnosis

Apert Syndrome is diagnosed based on :

  • Physical examination

  • Imaging (CT/MRI) to assess skull and limb fusion

  • Genetic testing to confirm FGFR2 mutation

Prenatal diagnosis is possible through advanced ultrasound or genetic testing if there’s family history.

Facial & Dental Abnormalities

  • Shallow eye sockets (can lead to bulging eyes)

  • Underdeveloped jaw and crowded teeth

  • Cleft palate (in some cases)

Developmental Concerns

  • Some children may have mild to moderate intellectual disabilities

  • Delays in speech and motor development

  • May require physical, speech, or occupational Therapy

Other Complications

  • Hearing loss due to frequent ear infections

  • Breathing or sleep issues due to midface anatomy

  • Vision problems

  • Possible heart or gastrointestinal anomalies

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?

  • Experienced craniofacial and pediatric surgical team

  • Expert hand and limb surgeons

  • In-house dental, orthodontic, and speech specialists

  • Comprehensive genetic counseling and support

Schedule a Consultation

Early intervention can make a lifelong difference. If your child has signs of Apert Syndrome, contact our craniofacial team today for compassionate, expert care.

Call Now Button