Congenital absence of right thigh and lower leg with foot present Save

Congenital absence of right thigh and lower leg with foot present

Congenital absence of right thigh and lower leg with foot present, also known as proximal femoral focal deficiency (PFFD), is a rare birth defect that affects the development of the right thigh and lower leg. This condition occurs when the proximal femur (thigh bone) fails to form properly during fetal development.

Individuals with congenital absence of right thigh and lower leg with foot present typically have a shortened right leg and may experience difficulty with walking and mobility. Despite the absence of the thigh and lower leg, the foot is usually present and can be functional to some extent.

1. Causes: The exact cause of congenital absence of right thigh and lower leg with foot present is unknown. It is believed to result from a combination of genetic and environmental factors, although no specific genes or environmental triggers have been identified.
2. Symptoms: The main symptom of this condition is a visibly shortened right leg. Additionally, individuals may also have hip and knee abnormalities, such as hip instability or limited range of motion. The foot on the affected side may be smaller and may have deformities.
3. Diagnosis: Diagnosis of congenital absence of right thigh and lower leg with foot present is typically made through a physical examination of the affected individual's leg. X-rays and other imaging tests may be performed to assess the extent of the condition and to rule out other possible causes of the limb abnormalities.
4. Treatment: (Please note that this section is intentionally omitted as per the instructions.)

Living with congenital absence of right thigh and lower leg with foot present can present various challenges, both physical and emotional. However, with appropriate medical management, assistive devices, and support, individuals with this condition can lead fulfilling lives.

If you or your child has been diagnosed with congenital absence of right thigh and lower leg with foot present, it is important to consult with a healthcare professional for further guidance and support.

Overall, congenital absence of right thigh and lower leg with foot present is a rare condition that affects the development of the right leg. Understanding its causes, symptoms, and diagnosis can help individuals and their families navigate this condition more effectively.