malformace

Malformace is commonly a misspelling of malformation, a term used in medicine to describe an abnormal development of tissues or organs that originates during embryogenesis. Malformations are structural defects present at birth and result from errors in morphogenesis, rather than from later injury or environmental influence after development has begun.

Malformations are distinguished from other developmental issues such as deformations, which arise from mechanical forces that alter otherwise normal tissue after formation, and disruptions, which involve loss of tissue due to external insults. They can affect virtually any organ system and vary from minor anomalies to major defects that require immediate or ongoing treatment.

Causes are often multifactorial, including genetic mutations, chromosomal abnormalities, and environmental exposures during pregnancy (teratogens), as well as nutritional deficiencies or maternal health conditions. Some malformations occur as part of syndromes with additional abnormalities, while others are isolated.

Common examples include neural tube defects (such as spina bifida and anencephaly), congenital heart defects, orofacial clefts, limb malformations, and renal or gastrointestinal tract anomalies. Prenatal screening and diagnostic tools—such as ultrasound, fetal MRI, and genetic testing—aid early detection. After birth, management depends on the specific malformation and may involve surgical correction, medical therapy, and multidisciplinary care to optimize function and quality of life.

Prevention strategies focus on periconceptional folic acid supplementation, avoidance of known teratogens, and general maternal health optimization. While some malformations can be treated effectively, others present lifelong challenges and require ongoing support.