any physical, mental, or biochemical abnormality present at birth.
birth defect n.
A physiological or structural abnormality that develops at or before birth and is present at the time of birth, especially as a result of faulty development, infection, heredity, or injury. Also called congenital anomaly.
- Congenital diaphragmatic hernia
congenital diaphragmatic hernia n. The absence of the pleuroperitoneal membrane, allowing protrusion of abdominal viscera into the chest.
- Congenital dysphagocytosis
congenital dysphagocytosis n. See chronic granulomatous disease.
- Congenital ectodermal defect
congenital ectodermal defect n. Incomplete development of the epidermis and skin appendages, causing the skin to be hairless and sweating to be deficient. Also called congenital ectodermal dysplasia.
- Congenital erythropoietic porphyria
congenital erythropoietic porphyria n. Abbr. CEP Enhanced porphyrin formation by erythroid cells in bone marrow, leading to severe porphyrinuria, often with hemolytic anemia and persistent cutaneous photosensitivity. Also called Günther’s disease.
- Congenital generalized fibromatosis
congenital generalized fibromatosis n. A rare disorder that is often fatal in the first week of life, although sometimes undergoing spontaneous remission, characterized by multiple subcutaneous and visceral fibrous tumors that are present at birth.