Misdannelse

Misdannelse is a term used in Norwegian to describe congenital anomalies or deformities present at birth. In medical contexts it is often translated as congenital malformation or deformity. The category includes structural defects of organs, limbs, or craniofacial regions, as well as certain functional abnormalities that arise during fetal development. The prevalence and severity vary widely, and misdannelser may be isolated or part of a broader genetic syndrome.

Causes and risk factors: Most misdannelser result from a combination of genetic and environmental influences. Genetic factors may involve chromosomal abnormalities or single-gene mutations. Environmental factors include teratogenic substances (such as certain medicines, alcohol, or infections), maternal diseases, poor nutrition, or exposure to harmful agents during pregnancy. Some risk factors can be reduced, for example through folic acid supplementation to lower neural tube defects.

Common types include neural tube defects (e.g., spina bifida, anencephaly), craniofacial anomalies (cleft lip/cleft palate), congenital heart defects, limb malformations, congenital GI and urogenital tract abnormalities, and skeletal dysplasias. Some misdannelser are detected before birth by ultrasound or genetic testing, while others are identified after delivery due to physical findings or imaging.

Treatment and prognosis: Treatment and prognosis depend on the specific anomaly. Management often requires a multidisciplinary team and may include surgical correction, medical therapy, prosthetics or implants, respiratory or feeding support, and rehabilitation. Early intervention and ongoing follow-up improve outcomes for many conditions. Some individuals with mild defects lead normal lives; others require lifelong care.

Prevention strategies include preconception and prenatal care, folic acid supplementation to reduce neural tube defects, vaccination and control of maternal infections, avoidance of teratogens, and glucose control in diabetes.