ectromelia

Ectromelia is a rare congenital limb malformation characterized by partial absence or deformity of a limb or limb segments, resulting from abnormal development of the limb buds during embryogenesis. It lies in the spectrum of congenital longitudinal limb deficiencies and is differentiated from amelia (complete absence of one or more limbs) and phocomelia (proximal limbs are attached close to the trunk).

The etiology is multifactorial. Genetic factors can play a role, with several chromosomal anomalies reported. Environmental exposures during pregnancy, such as teratogens, vascular disruptions, and maternal illnesses, have been linked to limb defects. In many cases, the cause remains unknown.

Severity varies. Affected limbs may show missing digits, portions of a limb, or more extensive deficiency. The defect can be unilateral or bilateral and may involve the upper or lower limbs, sometimes with associated anomalies in other organ systems. Classification schemes differ; ectromelia is sometimes used to describe distal deficiencies or segmental limb underdevelopment within other categories of limb reduction defects.

Prenatal ultrasound can detect limb abnormalities; postnatal assessment includes radiographs to delineate skeletal structure. Imaging helps plan management and evaluation for associated anomalies.

Treatment is individualized and typically requires multidisciplinary care. Goals include maximizing function and independence. Options may include orthopedic reconstruction, prosthetic fitting, and physical and occupational therapy. Early intervention and rehabilitation are important for motor development and adaptation.

Prognosis depends on severity and access to care; functional outcomes vary widely.