- 5q Deletion Syndrome
Other Names: Deletion 5q; Monosomy 5q; 5q deletion Chromosome 5q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 5. The severity of the condition and the si …
- Acute Myeloid Leukemia
Overview Acute myeloid leukemia (AML) is a cancer that affects the blood and bone marrow. Conditions are generally called “acute” when they develop quickly and have an aggressive course. The signs and symptoms of AML vary but may include easy bruising; …
- Acute Myeloid Leukemia
Acute myeloid leukemia (AML) is a cancer that affects the blood and bone marrow. Conditions are generally called “acute” when they develop quickly and have an aggressive course. The signs and symptoms of AML vary but may include easy bruising; bone pai …
- BRCA1 Hereditary Breast and Ovarian Cancer Syndrome
Other Names: BROVCA1, Familial susceptibility to breast-ovarian cancer 1 BRCA1 Hereditary Breast and Ovarian Cancer Syndrome (BRCA1 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women wit …
- Cushing Syndrome
Cushing’s syndrome is an endocrine disorder caused by prolonged exposure of the body’s tissues to high levels of cortisol (a hormone produced by the adrenal gland). It most commonly affects adults between age 20 and 50 years. Signs and symptoms of Cush …
- Myelodysplastic /Myeloproliferative Disease
Myelodysplastic/myeloproliferative diseases are a group of diseases of the blood and bone marrow in which the bone marrow makes too many white blood cells.
Neurofibromatosis (NF) is a genetic disease that causes tumors to develop in the nervous system.
- Ollier Disease
Other Names: Multiple cartilaginous enchondroses; Dyschondroplasia; Enchondromatosis Ollier Disease is a rare nonhereditary sporadic disorder where intraosseous benign cartilaginous tumors (enchondroma) develop close to growth plate cartilage. P …
- Tenosynovial Giant Cell Tumor (TGCT)
Tenosynovial giant cell tumor (TGCT) is a benign tumor involving the joint synovium, bursae, and tendon sheath. These rare tumors are sometimes referred to as giant cell tumor of the tendon sheath (GCT-TS) and/or pigmented villonodular synovitis (PVNS).
- WAGR Syndrome
WAGR syndrome is a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or intellectual disability.