Congenital scalp defects with distal limb anomalies” is the descriptive name most doctors use for Adams–Oliver syndrome (AOS). Babies are born with areas of ...

Congenital absence or hypoplasia of the fingers means one or more fingers (index, middle, ring, little) are missing, very short, or under-developed at birth, ...

Unilateral adactylia of the hand means a person is born with no fingers on one hand, while the other hand is normal. “Uni-” means one side. “A-dactylia” means ...

Unilateral adactylia means a baby is born without one or more fingers or toes on one side of the body. It is a congenital limb difference. “Unilateral” means ...

Mitochondrial complex I deficiency is a condition where the first enzyme of the cell’s energy chain (complex I, also called NADH:ubiquinone oxidoreductase) ...

ACAD9 deficiency is a rare genetic disease. It affects tiny parts of the cell called mitochondria. Mitochondria make energy. ACAD9 is a protein that helps ...

Acute Zonal Occult Outer Retinopathy, or AZOOR, is a rare eye condition. It starts suddenly. People notice bright flashes of light (called photopsia) and ...

Promyelocytic leukemia is a special type of acute myeloid leukemia. Doctors call it APL or AML-M3. It happens when a DNA swap between two chromosomes joins the ...

Acute promyelocytic leukemia (APL) is a fast-growing blood cancer. It starts in the bone marrow, the soft center of bones that makes blood cells. In APL, very ...

Acute type M3 myeloid leukemia is a fast-growing blood cancer where many immature white cells called promyelocytes build up in the bone marrow and blood. These ...

Acute Promyelocytic Leukemia (APL) is a fast-growing blood cancer where very early white blood cells (called promyelocytes) build up in the bone marrow and ...

Acute promyelocytic leukemia (APL) is a fast-growing blood cancer that starts in very early white blood cells called promyelocytes. In APL, a specific genetic ...

Acute Posterior Multifocal Placoid Pigment Epitheliopathy (APMPPE) is a sudden, short-term inflammation in the back of the eye, in the retina and retinal ...

Epitheliopathy means “a problem of the epithelium,” the thin protective layer of cells that lines the surface of organs and the skin. It can happen on the eye ...

Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is a rare, sudden-onset inflammatory eye disease. It mostly affects young adults. It causes ...

Acute myelosclerosis means a quick and severe scarring and hardening of the bone marrow. Bone marrow is the soft factory inside bones that makes red cells, ...

Acute myelofibrosis is a fast-moving blood and bone-marrow cancer in which the marrow suddenly becomes filled with immature blood-forming cells (“blasts”) and ...

Acute myelodysplasia with myelofibrosis (APMF) is a sudden and severe bone-marrow disease. The bone marrow, which normally makes red cells, white cells, and ...

Acute malignant myelosclerosis a very rare, aggressive leukemia in which the bone marrow becomes scarred (fibrotic) while blast cells (immature blood cells) ...

Acute malignant myelofibrosis is a very rare and aggressive blood-forming (myeloid) cancer. Doctors today usually use the name acute panmyelosis with ...