Spondyloepiphyseal dysplasia is a very rare condition that affects the bones in the arms and legs, and it occurs at birth. It is caused by a mutation of the gene COL2A1. This gene is responsible for normal development and growth of bone and tissue. It is not always genetic, and in many cases the gene mutates for no known reason.
Dwarfism
According to the Genetics Home Reference website, this condition causes abnormal bone growth, which results in a short stature. The average height for individuals with this condition is 3 to 4 feet tall. The trunk, neck, arms and legs tend to be shorter than normal, while the hands and feet tend to be average size.
Additional Structural Symptoms
Spondyloepiphyseal dysplasia can create abnormal curves in the spine such as scoliosis and lordosis, which can interfere with the ability to breathe. This change may make your spine unstable and put you at a higher risk of spinal cord injury. The Kniest SED Group states that additional symptoms can include a broad, barrel-shaped chest, clubfoot and a greater chance of developing arthritis.
Other Symptoms
Madison's Foundation states that if you have this condition, you may also experience trouble with your vision and hearing. The vertebrae and bones in the face may become flattened. The bones of the hips and legs may turn inward. Delayed motor development and muscle spasms are other common symptoms.
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