What is Apert syndrome?
Apert syndrome is a craniofacial abnormality characterized by an abnormal head shape due to craniosynostosis, small upper jaw, prominent eyes, and fusion of the fingers and toes.
What causes Apert syndrome?
Apert syndrome occurs in approximately 1 in 66,000 to 88,000 births. It can occur sporadically due to new gene mutations, occurring in individuals with no family history of the disorder or may be inherited through an autosomal dominant pattern. This means that only one gene is necessary to express the condition, creating a 50/50 risk for each pregnancy.
What are the symptoms of Apert syndrome?
Symptoms of Apert syndrome include the following:
- Premature fusion of cranial sutures (craniosynostosis)
- An under-developed mid-face causing bulging eyes, sunken cheeks, and dental problems
- Fusion of the hands and toes (syndactyly)
- Vision disturbances
- Recurrent ear infections
- Cardiac and gastrointestinal defects
- Heavy sweating
- Severe acne
- Cleft palate
- Fusion of neck bones
- Missing patches of hair
- Developmental delay and decreased intellectual capacity
Treatment for Apert syndrome:
The craniosynostosis and webbed hands and feet are treated surgically by 1 year of age. The mid-face deformity is treated surgically by 5 to 7 years of age.
An individual with Apert syndrome is followed closely by a number of healthcare professionals including an ophthalmologist, ENT, physical and occupational therapists, speech therapists, nutritionists, dentists, and orthodontists in order to address other symptomatology.
Life expectancy for an individual with Apert syndrome is normal; however, some of the health problems associated with the syndrome can lead to complicated disease and a premature death.