This is a recently described and rare hereditary condition involving primarily bone, eye and heart abnormalities.
Cataracts and retinal detachments may be detected in the first decade of life. Fractures of limb bones and compression fractures of the vertebrae also can occur in the first decade. The latter may lead to abnormal curvature of the spine and short stature. Osteoporosis and advanced bone age have been observed. The heart may have abnormal valves and holes in the tissue that separates the heart chambers. Hearing loss is common and the external ears are often low-set and rotated posteriorly. Some patients have learning difficulties. The bone deformities may significantly limit mobility and some individuals become wheelchair-bound by the second decade of life.
This is an autosomal recessive disorder caused by DNA changes (mutations) in both members of a specific gene. Carrier parents are normal but when both have a single copy of the mutation they confer a 25% risk of this condition to each of their children.
There may not be evident features of this syndrome at birth but bone fractures can occur in the first year of life. Cataracts may be detected in the first decade and a complete eye examination may reveal a retinal detachment. These findings necessitate a full physical and eye examination and there may be evidence of cardiac and other bone disease at that time.
Nothing is known about the impact of this disorder on longevity but the frequent fractures may lead to significant disability. It has been reported that hearing aids can significantly improve hearing. Special education may be of benefit for those with learning difficulties. Fractures need to be repaired promptly. Cataract surgery might be of benefit in selected patients.