Congenital disorder

A structural or functional condition present at birth, caused by genetic factors, environmental exposures, or their interaction. It may become apparent only later in life.

Birth defect: A structural or functional abnormality that develops before birth. This overlapping term often describes congenital disorders, especially structural abnormalities.
Organogenesis: The process by which embryonic cells form organs. Disruptions during organ formation can produce major structural congenital disorders.
Prenatal diagnosis: The assessment of a fetus for genetic conditions or structural abnormalities before birth. It can identify some congenital disorders before delivery and inform care planning.
Disability: A limitation in activity or participation shaped by health conditions and interactions with the surrounding environment. Some congenital disorders cause disability, while accessible environments can reduce its effects.
Congenital anomaly: A structural or functional difference originating before birth. This clinical term emphasizes the developmental feature that defines many congenital disorders.
Critical period: A limited developmental window when a particular process is especially sensitive to disruption. An exposure's effects depend partly on whether it occurs during a vulnerable developmental window.
Newborn screening: Testing shortly after birth to identify conditions for which early intervention can improve outcomes. Screening detects certain functional disorders that may not be visible at birth.
Rare disease: A disease affecting a small proportion of a population, with prevalence thresholds varying by jurisdiction. Many congenital disorders are rare, creating challenges for diagnosis and specialized care.
Genetic disorder: A condition caused by changes in DNA or chromosome structure or number. Genetic changes cause some congenital disorders, though many genetic conditions are not apparent at birth.
Teratogen: An environmental agent that can disrupt embryonic or fetal development and cause abnormalities. Teratogens are environmental causes of some congenital disorders.

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