This is a rare inherited disorder of facial and limb bones.
The face often appears rather “flat” which is secondary to underdevelopment of facial bones including the sinuses. The forehead may appear prominent and often the jaw is small. The root of the nose is broad and underdeveloped. The hard palate is often highly arched and may be clefted. The eyelid openings slant downwards and the eyes appear far apart.
The arms and fingers may also be anomalous. The hand is often deviated to the side towards the little finger and may lack full flexibility. The finger bones can be mildly malformed and also do not have full range of motion due to contractures. Hearing loss is common and there are no cognitive deficits.
This is an autosomal dominant condition in which transmission is vertical, that is, the condition is passed directly from parent to child with a 50% probability in each generation.
The diagnosis likely requires a collaborative effort among pediatricians, orthopedists, and ophthalmologists. Most patients function normally with minimal handicaps and there is no evidence that longevity is impacted.