This disorder has been reported only recently in a single family and is named after the physician who identified it. However, the causative gene mutation has been found in a total of 10 families.
In the three affected sibs reported, cataracts were noted in late adolescence. In addition, the colored part of the eye (iris) had a defect giving the pupils a keyhole appearance. Psychomotor development was delayed and none of the children learned to walk or talk. Sometime in late childhood the backbone (spine) became severely curved (kyphosis) and contractures of large joints such as the elbows and knees developed. The facial features are described as ‘coarse’ with prominent lips, a broad nasal bridge, and a prominent nose. Unsteadiness with poor balance may be present.
The parents in the family reported were considered to be related to each other which is part of the basis for considering this condition to be inherited as an autosomal recessive disorder. A gene mutation has been identified in the two copies of the children whereas they are only present in single copies of the parents and in unaffected sibs. These parents could expect that each of their children will have a 25% risk of inheriting this condition.
There is no treatment for this disorder although it would be expected that physical therapy might be helpful for the contractures. It is unknown if surgery for the cataracts would be helpful. The diagnosis is likely established by a team approach involving pediatricians, neurologists, orthopedists and ophthalmologists. Individuals with this condition have lived into the 5th decade.