Spondyloocular Syndrome
Patient Information
Characteristics
Background and History
This is a recently described and rare hereditary condition involving primarily bone, eye and heart abnormalities.
Clinical Correlations
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.
Genetics
Inheritance
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.
Pedigree
Autosomal recessive
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
Diagnosis and Prognosis
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.
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