congenital absence of upper arm and forearm with hand present

Congenital absence of upper arm and forearm with hand present is a congenital malformation characterized by the underdevelopment or absence of the upper portion of the limb while the hand is present. It primarily affects limb formation and is recognized soon after birth. The precise genetic basis is under investigation, and prevalence estimates remain unknown. Although the condition appears sporadically, the presentation can vary widely among affected individuals.

The most prominent feature is upper limb phocomelia, where the arm is markedly shortened or absent, which is considered a characteristic finding in this condition. In addition to the primary musculoskeletal abnormality, some individuals may have other anomalies such as abnormalities of the vertebral column, thorax morphology, and neck, contributing to structural differences. Cardiovascular involvement can present as abnormal cardiac septum and heart morphology, while atypical scarring of the skin and facial abnormalities are less common but have been reported. Not all individuals experience all features, and severity varies considerably.

The precise genetic basis of congenital absence of upper arm and forearm with hand present is under investigation, and no specific gene has been identified as contributing to this condition. It is thought to result from complex genetic and environmental factors that affect limb development during embryogenesis. Inheritance patterns are not clearly defined, and recurrence risks remain uncertain. Families are encouraged to seek genetic counseling for personalized guidance regarding potential risks in future pregnancies.

Currently, management focuses on supportive care and symptom management as there are no specific or FDA-approved treatments for this condition. Treatment is tailored to the individual and often involves a multidisciplinary team that may include orthopedists, physical therapists, and other specialists. Regular surveillance is an essential part of long-term care, helping to identify potential complications before they become serious. Patients and families are encouraged to discuss treatment options with their healthcare team and to seek the insight of specialists familiar with congenital limb malformations.

Outcomes vary widely among individuals, with some experiencing minimal functional limitations and others requiring ongoing supportive care for associated anomalies. With current standards of care, many individuals achieve important developmental milestones and lead active lives, although some may encounter challenges related to additional structural abnormalities. The condition may progress, stabilize, or follow a variable course in different individuals, and outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists familiar with this condition for ongoing guidance and support.