Ischiopatellar dysplasia

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Ischiopatellar Dysplasia

Ischiopatellar dysplasia (pronunciation: is-kee-o-pa-tel-lar dis-pla-sia) is a rare orthopedic condition that affects the ischium and the patella. The term is derived from the Greek words "ischion" (hip), "patella" (kneecap), and "dysplasia" (abnormal growth or development).

Definition

Ischiopatellar dysplasia is characterized by a poorly developed ischium, an unusually small patella, and associated skeletal abnormalities. This condition is typically present at birth and can lead to various physical limitations and complications.

Symptoms

The primary symptoms of ischiopatellar dysplasia include a small or absent patella, underdeveloped ischium, and other skeletal abnormalities such as hip dysplasia and clubfoot. Patients may also experience limited mobility and chronic pain.

Causes

The exact cause of ischiopatellar dysplasia is unknown. However, it is believed to be a genetic disorder, possibly inherited in an autosomal recessive manner.

Diagnosis

Diagnosis of ischiopatellar dysplasia is typically made through a combination of physical examination and imaging studies, such as X-ray or MRI. Genetic testing may also be used to confirm the diagnosis.

Treatment

Treatment for ischiopatellar dysplasia is primarily supportive and may include physical therapy, pain management, and in some cases, surgical intervention to correct skeletal abnormalities.

Related Terms

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