Fibular hypoplasia scapulo pelvic dysplasia absent

Fibular Hypoplasia and Scapulo Pelvic Dysplasia, Absent is a rare genetic disorder characterized by the underdevelopment (hypoplasia) of the fibula (one of the bones of the lower leg), abnormalities in the development of the shoulder blades (scapula), and pelvic dysplasia. This condition is part of a group of diseases known as limb malformations, which affect the growth and development of the arms and legs.

Symptoms and Characteristics

The primary features of Fibular Hypoplasia and Scapulo Pelvic Dysplasia, Absent include:

• Fibular Hypoplasia: The fibula may be shorter than normal or completely absent. This can lead to instability and deformity of the ankle and foot, potentially causing difficulty with mobility.
• Scapulo Pelvic Dysplasia: Abnormal development of the shoulder blades and pelvis. This may affect the posture and mobility of the individual.
• Limb Length Discrepancy: Due to the hypoplasia of the fibula, there may be a significant difference in the length of the legs, which can impact walking and may require intervention such as orthopedic shoes or surgery.
• Foot Deformities: Individuals may have foot deformities such as clubfoot, where the foot is twisted out of shape or position.

Causes

The exact cause of Fibular Hypoplasia and Scapulo Pelvic Dysplasia, Absent is not well understood, but it is believed to be genetic in nature. The condition is rare, and the pattern of inheritance is not clearly defined, suggesting that multiple genetic factors may be involved.

Diagnosis

Diagnosis of Fibular Hypoplasia and Scapulo Pelvic Dysplasia, Absent is primarily based on the physical characteristics and symptoms presented by the individual. Imaging studies such as X-rays and MRI can be used to assess the extent of bone abnormalities. Genetic testing may also be conducted to identify any underlying genetic causes or to rule out other conditions with similar symptoms.

Treatment

Treatment for Fibular Hypoplasia and Scapulo Pelvic Dysplasia, Absent is symptomatic and supportive. It may include:

• Orthopedic Interventions: Surgery may be necessary to correct bone deformities or to address limb length discrepancies. Orthotic devices may also be used to support mobility.
• Physical Therapy: To improve strength, flexibility, and mobility.
• Pain Management: Pain associated with the condition can be managed through medication or other therapies.

Prognosis

The prognosis for individuals with Fibular Hypoplasia and Scapulo Pelvic Dysplasia, Absent varies depending on the severity of the symptoms. With appropriate treatment and support, many individuals can lead active lives.

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