Campomelic dysplasia is one of the more rare forms of congenital short-limb dwarfism. Its incidence is approximately 1 in 111,000 to 1 in 200,000 live births. The term "campomelic" or "camptomelic" is of Greek origin and literally means "bent limb." Affected individuals are typically born with bowing of the long bones in the legs, and they are occasionally born with bowing in the arms. Bowing can cause characteristic skin dimples to form over the curved bone, especially on the lower legs. People with campomelic dysplasia also usually have short legs, dislocated hips, underdeveloped shoulder blades, 11 pairs of ribs instead of 12, bone abnormalities in the neck, and feet that are abnormally rotated (clubfeet).
Campomelic dysplasia is caused by a mutation in the SOX-9 gene, localized to chromosome 17. The SOX-9 gene is responsible for normal cartilage development and sexual development. 75% of males present as females in their genitalia.
Only a few people with campomelic dysplasia survive past infancy. As these individuals age, they may develop an abnormal curvature of the spine (scoliosis) and other spine abnormalities that compress the spinal cord. People with campomelic dysplasia may also have short stature and hearing loss.
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