Apert Syndrome is a rare congenital disorder characterized by the premature closure of cranial sutures, leading to skull abnormalities and other associated issues. This condition results in a flat and high skull shape, with the coronal sutures often closing early on both sides, and sometimes the forehead suture as well. Additionally, the fingers and toes are fused, particularly the second and third digits, with fusion ranging from skin and soft tissue to bone. The severity is classified into types I through IV, identifiable at birth.
The incidence of Apert Syndrome ranges from 1 in 16,000 to 1 in 20,000 births. It may be accompanied by cleft palate or other systemic problems.
Research indicates that the syndrome is primarily linked to mutations in two genes: P253R and S252W. The P253R mutation is associated with more severe symptoms and extensive cranial surgeries, but typically without cleft palate. The S252W mutation often leads to cleft palate, though symptoms are generally milder, with less severe head abnormalities. When cleft palate occurs, it is usually a mild form affecting only the soft palate, combined with a high-arched palate that can narrow the airway.
Key Symptoms
- Premature closure of cranial sutures, mainly the bilateral coronal sutures, and sometimes the forehead suture.
- Fusion of fingers and toes, varying in severity and prone to curvature, inflammation, and requiring frequent nail trimming.
- Underdeveloped midface, potentially leading to sleep apnea.
- Possible cleft palate, which may be linked to middle ear infections.
- Other systemic or skeletal abnormalities.
- Delayed development, with studies showing that more surgeries correlate with greater developmental delays.
Treatment Approaches
Traditional treatment for Apert Syndrome involved numerous surgeries before age 10, including skull procedures and finger separations for hands and feet.
Modern methods aim to minimize surgeries. Finger separations for hands and feet are performed in two stages, with skull and facial bone surgeries up to four times before adulthood (three skull surgeries plus one facial bone surgery).
Treatment Steps (Type I Example)
- If cleft palate is present, check for middle ear issues before the first surgery.
- First finger separation surgery for hands and feet, around 9-10 months old (may combine with cleft palate repair).
- Second finger separation surgery, around 13-14 months old (may combine with cleft palate repair).
- Use MRI to monitor for cerebellar prolapse (Chiari malformation).
- If no prolapse, perform forehead reshaping and expansion surgery at about 15 months old. If prolapse is present, conduct hindbrain reshaping and expansion, including occipital expansion.
- Monitor intraocular pressure every 6-9 months or via brain ultrasound for increased intracranial pressure.
- Conduct sleep studies to check for sleep apnea.
- Schedule regular MRI follow-ups as needed.
- If forehead surgery occurs at 15 months, hindbrain surgery follows at 5-6 years, and vice versa.
- Midface distraction surgery around 8-9 years old (earlier at 5-6 years if breathing issues exist).
- Adjust forehead shape during puberty as required.
Classification of Head Shape by Severity
Type I: Involves only bilateral coronal suture premature closure.
- Suggested procedure: First finger surgery at 9 months, second at 12 months, first cranial surgery at 15 months, and skull surgery at 5-9 years as needed.
Type II: Bilateral coronal suture premature closure with additional features.
- Suggested procedure: Second surgery earlier than in Type I.
Type III: Most severe, with bilateral coronal and forehead suture premature closure, leading to significant head deformation.
- Suggested procedure: Decompression surgery around 6 months if needed, with subsequent surgeries earlier than in Type I.