Causes And Types Of Dwarfism

Spondyloepiphyseal Dysplasias

Spondyloepiphyseal dysplasia is an inherited bone growth disorder that causes dwarfism and sometimes hearing and vision problems. The condition is congenital, or present at birth, with short stature, a very short trunk, and shortened limbs although the feet and hands are usually average-sized. This form of dwarfism presents with a normal spinal column length relative to the femur and curvature of the spine that progresses during childhood. There are other skeletal changes characteristic of this type of dwarfism such as flattened vertebrae, a downward or inward-turning foot, and a deformity of the hip joint that causes the upper bones of the leg to turn inward.

Many individuals with spondyloepiphyseal dysplasia have severe nearsightedness and sometimes other vision problems such as detached retinas. About twenty-five percent of patients also have hearing loss. Spondyloepiphyseal dysplasia is inherited in a dominant pattern, which means just one copy of the mutated COL2A1 gene is enough to cause the disorder.

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