Distinctive Features of Apert Syndrome
Apert syndrome is characterized by unique physical attributes that are evident from birth. These include a concave facial structure, an elongated forehead and face, wide-set eyes with difficulty in closing the eyelids, an underdeveloped jaw, and fingers that are webbed or fused together. This condition, known as syndactyly, often occurs alongside the facial features mentioned earlier. Typically, individuals with Apert syndrome will have at least three fingers or toes fused together on each hand and foot.
Diagnosis
Apert syndrome can be diagnosed through genetic testing, which allows doctors to determine if the fibroblast gene is mutated. In certain situations, a diagnosis can even be made while the baby is still in the womb. To confirm or rule out Apert syndrome, a medical provider may perform a fetoscopy. This procedure involves inserting an endoscope into the uterus through the abdomen, enabling the doctor to monitor the baby and collect a sample of blood or tissue for DNA analysis. Additionally, an ultrasound may be used to assess skull growth and the development of the hands and feet, searching for any abnormalities.