Apert Syndrome
Description
Apert syndrome is a rare genetic disorder that primarily affects the skull, hands, and feet. It‘s characterized by distinctive physical features resulting from premature fusion of certain skull bones. This fusion, known as craniosynostosis, can lead to various complications, including facial deformities, breathing difficulties, and intellectual disabilities. Understanding Apert syndrome, its causes, and available treatment options is crucial for providing appropriate care and support to individuals affected by this condition.
Genes Involved
Apert syndrome is caused by mutations in the FGFR2 gene, located on chromosome 10. This gene provides instructions for making a protein involved in cell growth and development, particularly in bone and cartilage formation. Mutations in this gene disrupt the normal growth and development of the skull, hands, and feet.
Recognizing the Signs and Symptoms
Recognizing the signs and symptoms of Apert syndrome is crucial for early diagnosis and intervention. Common features include:
- Craniosynostosis: Premature fusion of skull bones, leading to an abnormally shaped head.
- Midface Hypoplasia: Underdevelopment of the middle part of the face, resulting in a flat face and a prominent forehead.
- Hypertelorism: Wide-set eyes.
- Syndactyly: Fusion of fingers and/or toes, often affecting the middle three fingers.
- Brachydactyly: Short fingers and/or toes.
- Hearing Loss: Potential complication due to ear malformations.
- Breathing Difficulties: Possible due to a narrowed airway.
- Hydrocephalus: Accumulation of fluid in the brain, which can lead to increased head size.
- Intellectual Disability: Possible, but the severity varies widely.
- Other Features: Cleft palate, dental problems, and vision problems may also occur.
Causes
Apert syndrome is a genetic disorder caused by a mutation in the FGFR2 gene. This mutation is typically a spontaneous occurrence, meaning it is not inherited from either parent. However, in rare cases, the mutation can be inherited from a parent who carries the gene but does not have the syndrome themselves.
Inheritance/recurrence risk
While Apert syndrome is usually a spontaneous mutation, there is a small chance of it being inherited. If one parent carries the mutated gene, there is a 50% chance of passing it on to their child. The risk of having another child with Apert syndrome is also very low, but it‘s important to discuss genetic counseling with a medical professional to understand the specific risks.
