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.
- Congenital glaucoma
congenital glaucoma n. See buphthalmia.
- Congenital hemolytic anemia
congenital hemolytic anemia n. See hereditary spherocytosis.