Hannah Foncham
SPE 516
Fact Sheet on Alpert’s syndrome
Condition- Alpert’s syndrome
Description-
Alpert’s syndrome is a craniofacial/limb abnormality primarily involving distortions of the head and face as the skull and multiple cranial sutures fuse together early on in life. The eyes then tend to appear to "bulge out" due to the fact that their skull base and mid-face fails to grow in a normal fashion.
Children with Apert syndrome seem to have big eyes. In fact, the eyeballs are a normal size. The problem is that the bones surrounding the eyes (the orbits) cannot grow forward in a normal way.
The eyes are slightly side-spaced, and the eyelids sometimes tilt downward abnormally at the sides.
The eye problem most frequently found is an imbalance of the muscles that move the eye (called "strabismus"). Sometimes, one of the six muscles that move the eye may be completely absent. Many
children with Apert syndrome require eye muscle balancing surgery.
Alpert’s syndrome is congenital as it results from a genetic defect (mutation) that occurs early in pregnancy.
Treatment-
The most common treatment of this condition is surgery. Sometimes, it requires multiple surgeries involving a multidisciplinary team. Eye muscle balancing surgery is done if an imbalance of the muscles that move the eye is present.
Functional Implications
In addition to strabismus due to imbalance of the eye muscles, Some children's eyes can "bulge" so far forward (this condition is called proptosis, or exophthalmos) that the cornea of the eye can become exposed. Occasionally, when children with severe proptosis cry, their eyelids can get temporarily caught behind the eyeball. Some children with Apert syndrome may also develop optic nerve atrophy (weakening, or wasting), which can diminish a child's ability to see. It is not clear what causes this optic nerve atrophy, but it may be related to chronically elevated intracranial pressure.
Resources
http://www.faces-cranio.org/Disord/Apert.htm
http://www.stronghealth.com/services/childrens/craniofacial/apertsyndrome.cfm
http://www.skullbaseinstitute.com/aperts.htm
http://www.thecraniofacialcenter.com/apert_eyes_midface.html
http://www.worldcf.org/medical-info/craniofacial-resources/aperts-syndrome/