meromelia

Meromelia is a congenital disorder characterized by the partial absence of one or more limbs. It is classified as a limb reduction defect, where the development of limbs is incomplete during fetal growth. The exact causes of meromelia are often unknown, but it can be associated with genetic factors, chromosomal abnormalities, or exposure to teratogens during pregnancy. Some cases may also be linked to vascular disruptions that impede limb development.

Meromelia can be classified based on the extent and location of the missing limb parts. It can involve the upper or lower limbs, and the absence can range from partial to near-complete. Related conditions include amelia, which is the complete absence of a limb, and phocomelia, where limbs resemble flippers.

The primary symptom of meromelia is the partial absence of a limb or limbs at birth, which can vary widely in severity. Other associated anomalies may also be present, depending on the underlying cause. Diagnosis often occurs during pregnancy through prenatal imaging like ultrasound. After birth, physical examination and imaging tests confirm the condition. Treatment focuses on managing the condition to improve quality of life, which may include prosthetics, physical therapy, and surgical interventions if necessary.