Q72.11

Clinical Causes: Genetic factors or chromosomal abnormalities that interfere with limb development during fetal growth. Environmental influences during pregnancy, such as exposure to certain drugs, infections, or toxins, that may disrupt normal limb formation. Vascular disruptions during early pregnancy, leading to inadequate blood supply and development issues in limb tissues. Unknown factors, as sometimes the exact cause of congenital limb deficiencies cannot be determined.

Key Symptoms: Absent right thigh and part of the lower leg, leading to a shortened limb on the right side. A stump or residual limb present where the missing parts are absent. Presence of the foot, which may be malformed or structurally normal. Possible functional challenges involving mobility and gait, depending on the extent of limb absence. Potential associated anomalies in other parts of the body, although sometimes limb absence occurs in isolation.

Diagnosis Path: The diagnosis is typically made through a physical examination at birth, where the clinician observes the absence of parts of the limb. Imaging studies, such as X-rays, MRI, or ultrasound, are utilized to confirm the extent of the limb deficiency and to check for any internal abnormalities. Prenatal ultrasounds may sometimes detect limb anomalies before birth, allowing for early planning and intervention.

Treatment Protocols: Prosthetic fitting and training, which can help the individual perform daily activities and improve gait. Orthopedic interventions to support residual limb and improve posture or mobility. Physical and occupational therapy to strengthen muscles, improve range of motion, and adapt to limb differences. Surgical procedures, if needed, to improve limb function or adjust residual tissues for better prosthetic use. Psychological support and counseling to help cope with physical differences and boost self-esteem.