This syndrome has been recognized since 1993 and only a small number of patients have been reported since then.
The cornea (windshield of the eye) has a central scar-like opacity causing vision problems, but the remainder of the eye can be normal. Others may have smaller than normal eyes and still others have maldevelopment of the iris (colored part) with pupil abnormalities. The skull is often small (microcephaly) and brain scans may reveal incomplete development of specific structures. Cleft palate and a small lower jaw are often present. Some patients exhibit developmental delays with cognitive impairment and learning disabilities. The small intestines are often abnormal as well with parts of it underdeveloped and malformed, sometimes described as an apple peel deformity.
The heart muscle is sometimes abnormal and weak. There may be abnormalities of the kidneys as well.
This is an autosomal recessive disorder in which the responsible gene is changed (mutated) in both members of the pair. Usually each clinically normal parent carries a single mutation, in which case their children individually have a 25% risk for this condition.
Ophthalmologists and pediatricians are helpful in making the diagnosis. Infants generally do well following intestinal surgery. The results of eye surgery (corneal transplants) have not been reported. The prognosis is higly variable. Some individuals develop and function near normal whereas those with more severe disease may not live beyond infancy or early childhood.