Opsismodysplasia

Opsismodysplasia (pronounced op-sis-mo-dys-pla-sia) is a rare genetic disorder that affects the development of the skeleton. The term is derived from the Greek words "opsis" meaning late, "dys" meaning bad, and "plasia" meaning formation, referring to the delayed development and abnormal formation of bones in individuals with this condition.

Symptoms

Individuals with opsismodysplasia often have short stature, with particularly short limbs. Other common features include a small chest with short ribs, abnormal facial features such as a prominent forehead (frontal bossing), a small nose with upturned nostrils, and a flat midface. Many affected individuals also have an opening in the roof of the mouth (cleft palate) or a high arched palate.

Causes

Opsismodysplasia is caused by mutations in the INPPL1 gene. This gene provides instructions for making a protein that is involved in signaling within cells. Mutations in the INPPL1 gene disrupt these signaling pathways, which likely impairs the normal development and maintenance of bones.

Diagnosis

Diagnosis of opsismodysplasia is based on the characteristic physical features and confirmed by genetic testing to identify mutations in the INPPL1 gene. Imaging studies such as X-rays can also be used to identify the characteristic skeletal abnormalities.

Treatment

There is currently no cure for opsismodysplasia. Treatment is supportive and based on the signs and symptoms present in each individual. This may include physical therapy to improve mobility and surgical interventions to address skeletal abnormalities.

Prognosis

The prognosis for individuals with opsismodysplasia varies. Some individuals have a severe form of the disorder and do not survive past infancy due to respiratory problems. Others have a milder form and live into adulthood.

External links

Medical encyclopedia article on Opsismodysplasia
Wikipedia's article - Opsismodysplasia

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Opsismodysplasia