Metaphyseal dysplasia Pyle type

Metaphyseal Dysplasia, Pyle Type (Pyle disease) is a rare genetic disorder characterized by the abnormal development of the metaphyses, the wide portions of the long bones near the ends that are involved in growth. This condition leads to a distinctive skeletal dysplasia, which is primarily marked by widening of the metaphyses of the long bones, particularly noticeable in the legs, leading to a characteristic Erlenmeyer flask deformity on X-ray. Patients with Pyle disease may also exhibit a range of other skeletal abnormalities, including but not limited to, cortical thinning of the long bones, and underdevelopment of the facial bones.

Symptoms and Diagnosis

The primary symptoms of Metaphyseal Dysplasia, Pyle Type include bowing of the legs, short stature, and a waddling gait. Some individuals may also experience dental abnormalities and underdevelopment of the jaw. Diagnosis is primarily based on the characteristic radiographic findings, particularly the presence of the Erlenmeyer flask bone deformity, and may be confirmed through genetic testing. The condition is caused by mutations in the SFRP4 gene, which plays a role in bone development and growth.

Treatment and Management

There is no cure for Pyle disease, and treatment focuses on managing symptoms and improving quality of life. This may include orthopedic interventions to correct bone deformities and physical therapy to improve mobility. In some cases, surgical intervention may be necessary to address severe skeletal abnormalities. Regular monitoring by a healthcare team experienced in skeletal dysplasias is recommended to manage the condition effectively.

Genetics

Pyle disease is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. Parents of an individual with Pyle disease are typically carriers of one copy of the mutated gene but do not show symptoms of the disease.

Epidemiology

Metaphyseal Dysplasia, Pyle Type is extremely rare, with only a small number of cases reported in the medical literature. The exact prevalence of the condition is unknown.

See Also

• Skeletal dysplasia
• Genetic disorder
• Orthopedic surgery

Metaphyseal dysplasia Pyle type Resources
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