This is a syndrome primarily involving the skeleton.
The skull is deformed at birth and may be abnormally large. The jaw appears underdeveloped while the bones of the midface are flat. This, combined with shallow eye sockets gives a prominent appearance to the eyes and indeed may require surgery to restore normal blinking and proper moisturizing of the eye.
The skull bones may not fuse properly while some patients have hydrocephalus (‘water on the brain’) requiring surgery. There may be an abnormal curvature of the spine (scoliosis). Patients may be subject to frequent bone fractures of the limb bones. Intelligence is normal.
A change (mutation) in a single copy of a specific gene is responsible for this syndrome. Affected parents may pass on the mutation directly to their children with a 50% probability giving a vertical inheritance pattern.
The skull deformity is present at birth. Orthopedists, neurosurgeons, and ophthalmologists should be part of the clinical and diagnostic team. Children must be observed for development of hydrocephalus and for dry eyes. Shunt surgery for hydrocephalus and revision of the bony eye sockets may be necessary. Fractures need immediate attention.