What Is Apert Syndrome?
Apert syndrome is a genetic condition affecting the skull, face, hands, and feet. Here is what to know.
Apert syndrome is a genetic condition caused by a mutation in the FGFR2 gene. It involves early fusion of the skull bones (craniosynostosis) and fusion of the fingers and toes (syndactyly).
Key features:
- Skull and face:
- Craniosynostosis (early skull fusion)
- Bulging eyes (proptosis)
- Underdeveloped midface
- High-arched palate, sometimes with cleft
- Crowded teeth
- Hands and feet:
- Syndactyly (fused fingers and toes)
- The hands often have a "mitten" or "spoon" appearance
- Surgery to separate fingers is usually performed
- Other features:
- Hearing loss
- Acne (severe in adolescence)
- Normal intelligence in many, but learning difficulties are possible
Treatment timeline:
- Infancy:
- Cranial vault remodeling (6β12 months)
- Hand surgery to separate fingers (1β3 years)
- Cleft palate repair (if needed)
- Childhood:
- Midface advancement (Le Fort III)
- Orthodontics
- Hearing management
- Speech therapy
- Adolescence:
- Orthognathic surgery (if needed)
- Final hand surgery refinements
Long-Term Outlook
With comprehensive treatment, children with Apert syndrome can lead full, active lives. Multiple surgeries are needed, and the involvement of a craniofacial team is essential.
Clinical Guidance
Apert syndrome involves early skull fusion and fused fingers and toes. Treatment requires multiple surgeries throughout childhood including skull reshaping, hand separation, and facial advancement. Ongoing multidisciplinary care is essential.