Apert Syndrome

Apert Syndrome is a rare genetic disorder characterized by the premature fusion of certain skull bones. This early fusion affects the shape of the head and face. Understanding the causes, symptoms, and treatment options for this condition is crucial for those affected and their families.

What is Apert Syndrome?

Apert Syndrome is a form of craniosynostosis, a condition in which the bones in a baby's skull join together too early. This fusion prevents the skull from growing normally and affects the shape of the head and face. Named after the French physician Eugène Apert, who first described it in 1906, the syndrome has a prevalence of approximately 1 in 65,000 to 88,000 live births.

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Causes of Apert Syndrome

Apert Syndrome is caused by mutations in the FGFR2 gene, which provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. This gene mutation is usually spontaneous, meaning it occurs randomly and is not inherited from the parents.

Genetic Mechanism

The FGFR2 gene mutation leads to the production of a protein that signals cells to mature into bone cells prematurely. This premature signalling causes the premature fusion of the bones in the skull, hands, and feet. In most cases, Apert Syndrome is not inherited, but in rare circumstances, an affected individual can pass the mutated gene to their offspring.

Symptoms and Features of Apert Syndrome

The symptoms of Apert Syndrome vary in severity but generally include noticeable physical and developmental anomalies. Early diagnosis and treatment are essential for managing the condition effectively.

Craniofacial Features

Craniosynostosis: The premature fusion of skull bones results in an abnormal head shape.
Midface Hypoplasia: Underdeveloped upper jaw, cheekbones, and eye sockets.
Proptosis: Bulging of the eyes due to shallow eye sockets.
Cleft Palate: An opening in the roof of the mouth.

Limb Abnormalities

Syndactyly: Fusion of fingers and toes, often referred to as "mitten hands" or "sock feet."
Broad Thumbs and Big Toes: Unusually wide thumbs and big toes.

Other Features

Intellectual Disability: Varies from mild to moderate.
Hearing Loss: Due to frequent ear infections or structural abnormalities in the ears.
Respiratory Issues: Due to airway abnormalities.

Diagnosing Apert Syndrome

Diagnosing Apert Syndrome typically involves a combination of clinical evaluation and genetic testing.

Clinical Evaluation

A paediatrician or geneticist will conduct a thorough physical examination, focusing on the characteristic craniofacial and limb abnormalities. Imaging studies, such as X-rays or CT scans, may be used to assess the extent of craniosynostosis and other skeletal anomalies.

Genetic Testing

A definitive diagnosis is made through genetic testing to identify mutations in the FGFR2 gene. This testing can be done using a blood sample or a cheek swab. Prenatal testing is also available for families with a history of the disorder.

Treatment Options for Apert Syndrome

Treatment for Apert Syndrome is multidisciplinary and often involves a team of specialists, including paediatricians, craniofacial surgeons, neurosurgeons, orthopaedic surgeons, and speech therapists.

Surgical Interventions

Surgery is the mainstay of treatment and aims to correct the abnormalities caused by premature bone fusion.

Cranial Surgery

Cranial Vault Remodeling: Performed to correct the shape of the skull and allow for normal brain growth. This surgery is typically done within the first year of life.
Fronto-Orbital Advancement: Corrects the position of the forehead and eye sockets to improve appearance and function.

Limb Surgery

Syndactyly Release: Separates fused fingers and toes to improve hand and foot function. Multiple surgeries may be needed as the child grows.

Non-Surgical Interventions

Speech Therapy: Addresses speech and language difficulties.
Occupational Therapy: Helps with fine motor skills and daily living activities.
Hearing Aids: For children with hearing loss.

Apert Syndrome: Before and After Surgery

Surgical interventions can significantly improve the quality of life for individuals with Apert Syndrome. Before surgery, children often face challenges related to craniofacial structure, limb function, and developmental milestones. Post-surgery, many experience substantial improvements in appearance, function, and overall well-being.

Post-Surgical Outcomes

Improved Craniofacial Appearance: Surgeries like cranial vault remodelling and frontal-orbital advancement provide a more typical head shape and facial structure.
Enhanced Hand Function: Syndactyly release allows for better hand movement and dexterity.
Developmental Progress: With improved physical function, children often make significant developmental strides.

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Apert Syndrome in Adults

As individuals with Apert Syndrome transition into adulthood, ongoing medical care and support remain essential.

Medical Follow-Up

Regular follow-ups with a team of specialists are crucial to monitor and manage any long-term complications, such as hearing loss, respiratory issues, or orthopaedic problems.

Psychological Support

Living with Apert Syndrome can present emotional and psychological challenges. Access to mental health support and counseling can help individuals cope with these challenges and lead fulfilling lives.

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