Glossary of Medical Terms

A type of cancer that forms in fibrous (connective) tissue. Congenital fibrosarcoma usually occurs in infants and young children but it may also be found before birth by ultrasound. It can occur anywhere in the body. The tumor is often large and fast-growing, but it rarely spreads to other parts of the body. The cancer cells usually have a certain genetic change called a translocation (part of one chromosome switches places with part of another chromosome). Congenital fibrosarcoma is a type of soft tissue sarcoma. Also called infantile fibrosarcoma.

A benign (not cancer) blood vessel tumor that is fully formed at birth. Congenital hemangiomas usually form on the skin of the head and neck or arms and legs. They may also form in organs, such as the liver. Congenital hemangiomas may be raised or flat and usually appear as purple-red lesions on the skin. Some congenital hemangiomas go away on their own; others only partly go away or do not go away at all. Congenital hemangiomas are a type of vascular tumor.

A very rare disorder in which the bone marrow doesn’t make enough red blood cells. It is usually seen in the first year of life. Patients may have deformed thumbs and other physical problems. They also have an increased risk of leukemia and sarcoma, especially osteosarcoma (bone cancer). Patients with congenital hypoplastic anemia may have a mutation (change) in one of the genes that make proteins found in the cell’s ribosomes. Also called Blackfan–Diamond anemia, congenital pure red cell aplasia, DBA, Diamond-Blackfan anemia, erythrogenesis imperfecta, and inherited erythroblastopenia.

A type of kidney tumor that is usually found before birth by ultrasound or within the first 3 months of life. It contains fibroblastic cells (connective tissue cells), and may spread to the other kidney or to nearby tissue. Congenital mesoblastic nephroma is more common in males.

An inherited disorder in which there is a lower-than-normal number of neutrophils (a type of white blood cell that is important in fighting infections). Infants with the disorder get infections caused by bacteria, and are at an increased risk of acute myelogenous leukemia (AML) or myelodysplasia (a bone marrow disorder). Also called genetic infantile agranulocytosis, infantile genetic agranulocytosis, Kostmann disease, Kostmann neutropenia, and Kostmann syndrome.

A very rare disorder in which the bone marrow doesn’t make enough red blood cells. It is usually seen in the first year of life. Patients may have deformed thumbs and other physical problems. They also have an increased risk of leukemia and sarcoma, especially osteosarcoma (bone cancer). Patients with congenital pure red cell aplasia may have a mutation (change) in one of the genes that make proteins found in the cell’s ribosomes. Also called Blackfan–Diamond anemia, congenital hypoplastic anemia, DBA, Diamond-Blackfan anemia, erythrogenesis imperfecta, and inherited erythroblastopenia.

Weakness of the heart muscle that leads to a buildup of fluid in body tissues.

A procedure in which a cone-shaped piece of abnormal tissue is removed from the cervix. A scalpel, a laser knife, or a thin wire loop heated by an electric current may be used to remove the tissue. The tissue is then checked under a microscope for signs of disease. Conization may be used to check for cervical cancer or to treat certain cervical conditions. Types of conization are LEEP (loop electrosurgical excision procedure) and cold knife conization (cold knife cone biopsy). Also called cone biopsy.

A compound formed by chemically joining two or more different substances. For example, an antibody-drug conjugate is made up of a monoclonal antibody that is chemically linked to a drug. Some conjugates are used to treat cancer.

A membrane that lines the inner surface of the eyelid and also covers the front part of the eye. Conjunctivitis is inflammation of the conjunctiva.