Apert Syndrome: Causes, Symptoms and Treatment

Written by Medicover Team and Medically Reviewed by Dr Neha Mukhi , Pediatricians

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1. Causes 2. Find a Doctor 3. Diagnosis 4. Treatment 5. FAQs

Apert Syndrome is a rare genetic disorder where certain skull bones fuse too early, affecting normal head and facial development. It is a type of craniosynostosis that impacts both appearance and growth.

This condition was first described in 1906 and occurs in approximately 1 in 65,000 to 88,000 live births, requiring early diagnosis and care.

What Are the Different Types of Apert Syndrome?

Apert Syndrome does not have clearly defined types but may present with varying severity. The condition differs based on the extent of bone fusion and associated abnormalities.

These variations influence treatment planning and long-term outcomes.

Classic presentation with craniosynostosis and syndactyly
Severe cases with significant facial and limb deformities
Milder forms with less pronounced skeletal abnormalities

What Are the Symptoms And Warning Signs Of Apert Syndrome?

The symptoms of Apert Syndrome vary in severity and usually involve physical and developmental abnormalities. Early identification helps in better management and improved outcomes.

These signs mainly affect the skull, face, limbs, and overall development.

Craniosynostosis leading to abnormal head shape
Midface hypoplasia with underdeveloped facial bones
Proptosis causing bulging eyes
Cleft palate affecting feeding and speech
Syndactyly or fusion of fingers and toes
Broad thumbs and big toes
Intellectual disability ranging from mild to moderate
Hearing loss due to frequent ear infections
Respiratory issues due to airway abnormalities

What Are the Common Causes of Apert Syndrome?

Apert Syndrome is caused by genetic mutations that affect bone development. These mutations lead to premature fusion of bones in the skull, hands, and feet.

In most cases, the mutation occurs randomly and is not inherited from parents.

Mutation in the FGFR2 gene affecting bone growth
Premature signaling of bone cell development
Spontaneous genetic mutation during fetal development
Rare inheritance from an affected parent

When Should You See A Doctor For Apert Syndrome?

Apert Syndrome is usually identified early in life, and timely medical consultation is essential for proper care. Early intervention can help manage complications effectively.

Parents should seek expert care as soon as any abnormal physical signs are noticed.

Consult if abnormal head shape or fused fingers/toes are seen at birth
Seek help for breathing, feeding, or developmental difficulties
Consult specialists such as Pediatrics, Neurosurgery, Plastic Surgery, and Orthopedics

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How is Apert Syndrome Diagnosed?

Diagnosis of Apert Syndrome involves clinical examination and genetic testing. Early diagnosis helps in planning appropriate treatment strategies.

Doctors assess physical features and confirm findings with advanced diagnostic methods.

Physical examination of craniofacial and limb abnormalities
Imaging tests such as X-rays or CT scans
Genetic testing to detect FGFR2 gene mutation
Prenatal testing for families with a history of the condition

What Are the Treatment Options For Apert Syndrome?

Treatment for Apert Syndrome requires a multidisciplinary approach involving various specialists. The focus is on correcting physical abnormalities and improving function.

Management includes both surgical and supportive therapies.

Cranial vault remodeling to allow normal brain growth
Fronto-orbital advancement to correct forehead and eye position
Syndactyly release surgery to separate fused fingers and toes
Speech therapy for communication improvement
Occupational therapy for daily activity support
Hearing aids for managing hearing loss
Care from specialists like paediatricians and neurosurgeons

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What is the Recovery Process Like For Apert Syndrome?

Recovery in Apert Syndrome depends on the severity of the condition and the treatments performed. It often involves long-term medical care and follow-up.

Children usually require multiple interventions and supportive therapies as they grow.

Post-surgical recovery with regular monitoring
Gradual improvement in skull shape and function
Ongoing therapies for speech and motor skills
Long-term developmental and medical support

What Are the Outcomes After Surgery For Apert Syndrome?

Surgical treatment can significantly improve quality of life in individuals with Apert Syndrome. It helps correct physical deformities and enhances functional abilities.

Post-surgery outcomes vary but are generally positive with proper care.

Improved craniofacial appearance after corrective surgeries
Better hand function after syndactyly release
Enhanced developmental progress with therapy support

How Does Apert Syndrome Affect Adults?

Individuals with Apert Syndrome require continued care into adulthood. Long-term management focuses on maintaining health and addressing complications.

Support systems play an important role in improving quality of life.

Regular follow-ups for issues like hearing loss and respiratory problems
Management of orthopaedic and structural concerns
Psychological support and counseling for emotional well-being

Frequently Asked Questions

1. What are the features of Apert syndrome?

Features include a prematurely fused skull (craniosynostosis), fused fingers and toes (syndactyly), distinctive facial features, dental problems, and possible developmental delays.

2. What causes Apert syndrome?

Apert syndrome is caused by mutations in the FGFR2 gene, which affect normal bone growth and development before birth.

3. How is Apert syndrome diagnosed?

Diagnosis is based on a physical examination, imaging studies, and genetic testing to confirm mutations in the FGFR2 gene.

4. What is the lifespan for someone with Apert syndrome?

With early diagnosis, appropriate surgeries, and ongoing medical care, many people with Apert syndrome can have a near-normal life expectancy.

5. How is Apert syndrome treated?

Treatment includes corrective surgeries for the skull and fused digits, along with speech therapy, dental care, hearing support, and regular follow-up by a multidisciplinary team.