(Q72.1) Congenital absence of thigh and lower leg with foot present

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96 738 in individuals diagnosis congenital absence of thigh and lower leg with foot present confirmed

Etiology Pathogenesis Clinical Pattern Diagnostics Treatment Prevention

Diagnosis congenital absence of thigh and lower leg with foot present is diagnosed Men are 10.71% more likely than Women

53 547

Men receive the diagnosis congenital absence of thigh and lower leg with foot present

0 (less than 0.1%)

Died from this diagnosis.

100

43 191

Women receive the diagnosis congenital absence of thigh and lower leg with foot present

0 (less than 0.1%)

Died from this diagnosis.

Risk Group for the Disease congenital absence of thigh and lower leg with foot present - Men aged 15-19 and Women aged 10-14

In Men diagnosis is most often set at age 0-44, 50-54, 70-79

Less common in men the disease occurs at Age 45-49, 55-69, 80-95+Less common in women the disease occurs at Age 50-54, 65-74, 80-89, 95+

In Women diagnosis is most often set at age 0-49, 55-64, 75-79, 90-94

Disease Features congenital absence of thigh and lower leg with foot present

Absence or low individual and public risk

Congenital absence of thigh and lower leg with foot present - what does this mean

Congenital absence of thigh and lower leg with foot present is a rare congenital disorder caused by the absence of the lower femur and tibia bones. this condition is typically present at birth and can cause a variety of physical impairments, including difficulty with walking and balance, difficulty with sitting, and the need for a prosthetic device.

What happens during the disease - congenital absence of thigh and lower leg with foot present

Congenital absence of thigh and lower leg with foot present is a rare congenital disorder caused by a disruption of the normal development of the lower limb during the early stages of embryonic development. it is thought to be caused by a mutation in the hoxd13 gene, which is responsible for regulating the formation of the lower limb. this mutation leads to a disruption in the normal patterning of the lower limb, resulting in the absence of the thigh and lower leg with the foot remaining present.

Clinical Pattern

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How does a doctor diagnose

Radiography
Ultrasound
Magnetic Resonance Imaging (MRI)
Computed Tomography (CT) Scan
Arteriography
Angiography
Bone Scan
Electromyography (EMG)
Biochemical Tests
Genetic Tests

Treatment and Medical Assistance

Main Goal: To restore the patient's mobility and reduce pain

Prescribing physical therapy to build strength and restore range of motion
Prescribing medications to reduce pain and inflammation
Surgery to reconstruct the bones and joints
Prescribing a custom-made prosthesis to replace the missing limb
Prescribing orthotics to support the foot
Prescribing occupational therapy to help the patient adjust to the prosthesis
Providing psychological support to help the patient cope with the loss of the limb

15 Days of Hospitalization Required

Average Time for Outpatient Care Not Established

Congenital absence of thigh and lower leg with foot present - Prevention

Prevention of congenital absence of thigh and lower leg with foot present can be achieved through the implementation of prenatal screening and genetic counseling for pregnant women. this can help identify any potential genetic risk factors and provide advice on how to reduce the risk of this condition occurring in the unborn child.

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