Etiology:

• AD – missense mutation in FGFR2 gene
• Premature fusion of cranial sutures – increased intracranial pressure – therefore prevents skull from growing normally and affects shape of head and face

Clinical:

Cranial deformities:

• Frontal bossing
• Premature fusion of coronal suture
• Brachycephaly
• ‘Hammered silver’ appearance of skull

Facial malformations:

• Maxilla hypoplasia
• Mandible prognathism

Dental deformities:

• High arched palate
• Peg laterals
• Partial anodontia

Eye deformities:

• Exophthalmos
• Divergent strabismus
• Blindness
• Neuritis
• Hypertelorism

Others:

• Spina bifida occulta

Management:

• Surgical
• Orthodontic treatment