Eye manifestations of craniosynostosis

Craniosynostosis is a group of rare hereditary disorders characterized by premature infection of the cranial sutures in combination with pronounced orbital anomalies.

The two most common pathologies in which craniosynostosis occurs are Crouzon syndrome, Apert syndrome.

[1], [2], [3], [4]

Crouzon Syndrome

Crouzon syndrome is primarily formed by the premature closure of the coronal and sagittal sutures. Heredity is autosomal dominant, but in 25% of cases there may be a fresh mutation.

[5], [6]

Eye manifestations

• Exophthalmos due to a shallow orbit are the most conspicuous sign. It develops again because of a delay in the growth of the upper jaw and cheekbone. In severe cases, eyeballs are dislocated and lie in front of the eyelids.
• Hypertelorism (wide distance between orbits).
• V-shaped exotrophy and hypertropy.
• Vision-threatening complications include exposure keratopathy and optical neuropathy due to compression of the optic nerve in the visual field.

Pathology of the eyeball: aniridia, blue sclera, cataracts, subluxation of the lens, glaucoma, coloboma, megalocerosis and optic nerve hypoplasia.

[7], [8]

Systemic disorders

• Shortening of the anteroposterior size of the head and wide skull due to premature closure of the joints.
• Hypoplasia of the middle part of the face and a curved nose ("parrot's beak"), which gives the person a "frog" look.
• Prognathism of the lower jaw.
• Inverted V-shaped sky.
• Acanthokeradotermia.

Apert Syndrome

Syndrome Apert (acrocephalosyndactyly) is the most severe of craniosynostosis and can affect all cranial sutures. Heredity is autosomal dominant, but most sporadic cases are associated with late age of the parents.

[9], [10]

Eye signs

• Small orbits, exophthalmos and hypertelorism are usually less pronounced than with Crouzon syndrome.
• Exotropy.
• Antimonogoloid section of the eyes.
• Vision-threatening complications are the corneal obscuration of the eyelids and the atrophy of the optic nerve.

Pathology of the eyeball: keratoconus, subluxation of the lens and congenital glaucoma.

[11], [12], [13]

System attributes

• Oxycephaly with a flat occiput and steep forehead.
• Horizontal notch above the supraorbital crest.
• Hypoplasia of the middle of the face with a nose like "parrot's beak" and low-set ears.
• Split sky in the form of a high dome and a double tongue.
• Syndactyly of hands and feet.
• Anomalies of the heart, lungs and kidneys.
• Acne-like rashes on the skin of the trunk and extremities.
• Mental retardation (in 30% of cases).