This syndrome of skull deformity (craniosynostosis) was first described in 1909 and is quite rare. It is unusual in being one of the few hereditary skull and skeletal disorders to be inherited as an autosomal recessive disorder, most being inherited in an autosomal dominant pattern.
The outstanding deformity is a tall (tower) skull due to premature closure of the skull sutures that are normally open in early childhood. However, many patients also have short digits and sometimes extra ones, especially toes. The toes and sometimes the fingers are partially fused. Some patients are short in stature. The nasal bridge is wide and the eyes may appear widely spaced. A variety of other eye anomalies have been described such as a small cornea (the usually clear ‘windshield’ of the eye) with opacities. The retina may not develop normally and the optic nerve in the back of the eye may appear ‘crowded’ although the impact on vision remains to be determined. However, nystagmus (‘dancing’ eyes) is often present suggesting that vision is abnormal. Brain and heart defects are sometimes seen and a few patients have mental deficits.
This is an autosomal recessive disorder in which both normal parents, sometimes related, must contribute a gene mutation.
The diagnosis often requires a team approach with medical geneticists, neurosurgeons, pediatricians and ophthalmologists contributing. The prognosis is highly variable depending on the severity of the malformations. The eye changes generally do not need treatment but if the skull sutures are extensively fused, surgery may be required. Adult patients have been reported.