Scapuloiliac dysostosis

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Scapuloiliac Dysostosis
Specialty	Orthopedics, Genetics
Causes	Genetic mutation
Diagnostic method	Clinical evaluation, Genetic testing
Treatment	Symptomatic and supportive
Frequency	Rare

Scapuloiliac Dysostosis is a rare genetic disorder characterized by malformations of the scapula and pelvis, along with other skeletal anomalies. This condition is also known by other names, including Kosenow syndrome and pelvis-shoulder dysplasia. The disorder is part of a group of diseases known as skeletal dysplasias, which affect the growth and development of bones.

Signs and Symptoms

Patients with Scapuloiliac Dysostosis may present a variety of symptoms, primarily related to the skeletal system. Common manifestations include underdeveloped or absent scapulae, malformations of the iliac bones in the pelvis, short stature, and limited range of motion in the shoulders. Other possible features include facial asymmetry, hearing loss, and heart defects.

Causes

Scapuloiliac Dysostosis is caused by genetic mutations. The exact genes involved may vary among individuals, and in many cases, the genetic cause remains unidentified. It is believed to follow an autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Diagnosis

Diagnosis of Scapuloiliac Dysostosis is primarily based on clinical evaluation and the characteristic features observed in radiographic imaging. Genetic testing may be helpful in confirming the diagnosis and understanding the inheritance pattern, especially in families with a history of the condition.

Treatment

There is no cure for Scapuloiliac Dysostosis, and treatment focuses on managing symptoms and improving quality of life. This may include physical therapy to enhance mobility and strength, surgical interventions to correct skeletal deformities, and other supportive therapies as needed for associated complications.

Prognosis

The prognosis for individuals with Scapuloiliac Dysostosis varies depending on the severity of the symptoms and the presence of associated complications. With appropriate management, many individuals can lead active and fulfilling lives.

See Also

• Skeletal dysplasia
• Genetic disorder
• Orthopedic surgery

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