congenital absence of thigh and lower leg with foot present, bilateral

Congenital absence of thigh and lower leg with foot present, bilateral is a congenital musculoskeletal anomaly in which the thigh and lower leg segments are absent while the foot is present on both sides. This condition is evident at birth and is typically identified during the initial newborn evaluation. The precise genetic basis is not established, and there is no known inheritance pattern linked to this anomaly. Because reliable epidemiological data are not available, the prevalence of this condition is not well defined.

Individuals with this condition are generally diagnosed at birth due to the visibly absent thigh and lower leg segments, while the presence of the foot provides a distinctive clinical picture. In addition to the obvious limb deficiency, affected individuals may experience challenges with mobility and differences in muscle development. There may be variations in limb function and orthopedic alignment as the child grows, and some may require additional interventions to support motor development. Not all individuals experience all features, and severity varies considerably.

The precise genetic causes of congenital absence of thigh and lower leg with foot present, bilateral are not yet defined. There are no specific genes or inheritance patterns reported for this condition, and the underlying etiology appears to involve complex interactions between genetic and environmental factors. With the current state of knowledge, the genetic basis remains under investigation. Families seeking more clarity or considering future family planning may find it helpful to consult with a genetic counselor.

Currently, management focuses on supportive care and symptom management tailored to individual needs. Treatment typically involves physical and occupational therapies to improve mobility and function, and the use of prosthetic devices may be considered to enhance ambulation. A multidisciplinary team — including orthopedic specialists, rehabilitation experts, and physiotherapists — plays a key role in developing a personalized care plan. Patients and families are encouraged to discuss available interventions and long-term management strategies with their healthcare team to determine the most appropriate approach.

Outcomes for individuals with congenital absence of thigh and lower leg with foot present, bilateral vary widely depending on the severity of the limb deficiency and access to comprehensive supportive care. With current standards of care, many individuals achieve a good quality of life through individualized rehabilitation and adaptive strategies, although challenges with mobility and function may persist into adulthood. Outcomes described in medical literature continue to evolve as standards of care improve, and variability in presentation means that each case may follow a different trajectory. Families often find it helpful to connect with rehabilitation specialists and genetic counselors for ongoing guidance and support in managing the condition.