This condition is rare and rather highly variable in its presentation. The facial and head features described below are considered by some, though, to be characteristic allowing diagnosis by simple observation.
The characteristic facial and skull features are: a prominent forehead with wrinkled facial skin, deep-set eyes, a triangular face with underdevelopment of the cheeks, and underdeveloped nasal openings. Joints are excessively flexible and some patients have a hearing deficit. The teeth may be late to erupt and bone age is often delayed. Individuals are often short in stature. They may be resistant to the action of insulin which results in abnormal fat deposition.
Most developmental milestones occur on time although a few patients have been reported with delayed speech. Mild cognitive impairment has been reported.
A mutation in a specific gene is responsible for this condition. Its occurrence follows a vertical pattern as affected parents transmit a 50% risk for this condition to each of their children.
This condition is rare but experienced pediatricians and geneticists might be able to recognize the facies at or soon after birth. The individual features are not specific to this syndrome but all together are diagnostically characteristic. Because of the risk of blinding glaucoma in early childhood, an ophthalmologist should be a member of the diagnostic team and provide longer term eye care.
Nothing is known about longevity but most patients can live a nearly normal lifespan. Hearing and vision should be periodically assessed and treated when indicated. An endocrinologist should assess the blood sugar and insulin responsiveness. Inguinal hernias may need to be surgically repaired. Hearing loss should be evaluated and treated as necessary.