This is a malformation syndrome with highly variable clinical features involving the eyes, skeletal system, teeth, and hair.
Most patients have small, deep-set eyes and palpebral fissures are small. A few patients have had cataracts and glaucoma. Abnormal eye movements and crossing of the eyes are sometimes present. The nose has been described as “pinched” since it often appears narrow and peaked. The teeth are often small with a defective enamel covering. The hair is thin and sparse and nails may appear malformed. The ribs and bones of the arms and legs are widened. The fingers and toes are often webbed and constituent bones may be missing or underdeveloped. Neurologic deficits such as spasticity may be seen in some patients but the pattern is not consistent.
A single mutant gene seems to cause this disorder. Family patterns of inheritance are consistent with both autosomal dominant and autosomal recessive inheritance.
The diagnosis is based on the unique combination of bone and eye findings in the presence of typical facial features. It usually requires the collaborative efforts of geneticists, pediatricians and ophthalmologists. No treatment is available for the general disorder although the presence of cataracts and glaucoma may require specific therapy. Neurologic deficits are usually relatively mild.