What Is Crouzon Syndrome?

What Is Crouzon Syndrome?

Crouzon syndrome is a genetic condition that affects skull and facial development. Here is what families should know.

Crouzon syndrome is a genetic condition characterized by early fusion of the skull bones (craniosynostosis), which affects the shape of the head and face. It is caused by mutations in the FGFR2 or FGFR3 gene.

• Key features:
• Craniosynostosis — the skull sutures fuse too early, limiting skull growth
• Facial features: Bulging eyes (proptosis), underdeveloped midface, beaked nose, high-arched palate
• Crowded teeth — from a small upper jaw
• Hearing loss — conductive hearing loss in some cases
• Normal intelligence in most cases (unless there is increased intracranial pressure)

• What symptoms occur:
• Vision problems from bulging eyes
• Breathing difficulties from a small midface
• Sleep apnea
• Dental crowding
• Possible increased intracranial pressure (requires monitoring)

Treatment:

• Skull surgery:
• Cranial vault remodeling (typically 6–12 months of age)
• Relieves pressure on the brain
• Creates a more normal head shape

• Midface surgery:
• Le Fort III osteotomy (advances the midface)
• Typically performed around age 6–12
• Improves breathing, eye position, and facial appearance

• Other treatments:
• Orthodontics and braces
• Orthognathic surgery (if needed)
• Hearing aids
• Speech therapy

Clinical Guidance

Crouzon syndrome causes early skull fusion, leading to characteristic facial features. Treatment involves skull surgery in infancy and midface advancement in childhood. Most children have normal intelligence and excellent outcomes.