What are the signs and symptoms of Apert syndrome?
Apert syndrome is primarily characterized by a fusion of the skull bones that occurs too early during development (craniosynostosis) and webbing of the fingers and toes (syndactyly). The early fusion of the skull causes the head to be cone-shaped (acrocephaly). This can also lead to a sunken appearance in the middle of the face, bulging and wide-set eyes, and a "beaked" nose. An underdeveloped upper jaw and shallow eye sockets can cause dental and vision problems. Craniosynostosis can also affect the development of the brain, disrupting intellectual development. Cognitive abilities in people with Apert syndrome range from normal to mild or moderate intellectual disability.
Additional signs and symptoms of Apert syndrome may include hearing loss, extra fingers or toes (polydactyly), heavy sweating (hyperhidrosis), oily skin with severe acne, patches of missing hair in the eyebrows, and spinal bones in the neck (cervical vertebrae) that are fused. Recurrent ear infections may be associated with an opening in the roof of the mouth (a cleft palate).
Last updated: 4/11/2017
How is Apert syndrome diagnosed?
Apert syndrome can be diagnosed based on the presence of the following features:
Turribrachycephalic skull shape (cone-shaped or towering skull) which is visisbly apparent and can be confirmed by skull radiograph or head CT examination
Characteristic facial features including moderate-to-severe underdevelopment of the midface, bulging and wide-set eyes, "beaked" nose, underdeveloped jaw and shallow eye sockets