Pelvic shoulder dysplasia
Pelvic Shoulder Dysplasia is a rare congenital disorder characterized by abnormalities in the development of the pelvis and shoulder girdle. The condition is part of a group of disorders known as skeletal dysplasias, which affect the growth and development of bones and cartilage. Pelvic Shoulder Dysplasia is notable for its impact on the shoulder blades (scapulae) and the pelvis, leading to a range of physical challenges and potential mobility issues for those affected.
Symptoms and Diagnosis
The primary symptoms of Pelvic Shoulder Dysplasia include underdeveloped or malformed pelvic bones and shoulder blades. This can lead to a noticeable difference in shoulder height, limited range of motion in the shoulders and hips, and potential difficulties with walking or movement. Diagnosis is typically made through a combination of physical examination and imaging studies, such as X-rays, which can reveal the characteristic abnormalities in bone structure.
Causes
The exact cause of Pelvic Shoulder Dysplasia remains unknown, but it is believed to involve genetic factors. It may occur as a spontaneous mutation or be inherited in an autosomal recessive manner, meaning that a child must inherit one copy of the mutated gene from each parent to be affected.
Treatment
Treatment for Pelvic Shoulder Dysplasia focuses on managing symptoms and improving mobility. This may include physical therapy to strengthen muscles and improve range of motion, as well as surgical interventions to correct bone abnormalities. Orthopedic specialists play a key role in the treatment and management of this condition.
Prognosis
The prognosis for individuals with Pelvic Shoulder Dysplasia varies depending on the severity of the condition and the effectiveness of treatment. With early intervention and appropriate care, many individuals can lead active and fulfilling lives.
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Contributors: Prab R. Tumpati, MD