Acquired generalized lipodystrophy (AGL) is a rare condition where a person gradually loses almost all body fat under the skin (subcutaneous fat) after birth. This loss is not present at birth (that ...
Acquired epidermolysis bullosa (EBA) is a rare autoimmune skin disease. “Autoimmune” means your immune system accidentally attacks part of your own body. In EBA, the immune system makes antibodies ...
Acquired C1 inhibitor deficiency is a problem of the body’s natural “brakes” for swelling. The C1 inhibitor (often written as C1-INH) is a protein in your blood. It controls several systems that can ...
Bradykinin-induced angioedema is sudden, deep swelling of the skin or the lining of the mouth, throat, gut, or genitals that happens because the body has too much bradykinin. Bradykinin is a natural ...
Agranulocytosis means the number of neutrophils (the main germ-fighting white blood cells) in your blood becomes extremely low. Doctors usually define it as an absolute neutrophil count (ANC) below ...
Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies is a rare condition that starts in adulthood. In this condition, the body makes antibodies that wrongly attach to and block a ...
Acquired adult-onset immunodeficiency means a person who was healthy as a child now develops a weak immune system later in life. “Acquired” means it happens after birth. “Adult-onset” means it starts ...
Pyramidal molar–glaucoma–upper abnormal lip syndrome is an ultra-rare, inherited condition that affects teeth, the eyes, and the upper lip. It is also called Ackerman syndrome and pyramidal ...
Ackerman fused molar root syndrome (often called Ackerman syndrome) is a very rare, inherited condition in which the back teeth (molars) develop unusual root shapes—for example, the roots may be ...
Ackerman syndrome most commonly refers to an extremely rare, inherited developmental (congenital) condition that affects the teeth, lips/philtrum (the groove under the nose), eyes, and hands. Typical ...
Achromatopsia Type 3 is a rare eye condition that you are born with. It happens because of changes (mutations) in a gene called CNGB3. This gene tells the cone cells in the retina how to build part ...
Chondrodystrophia (often called chondrodystrophy) is not one single disease. It is a group of rare conditions where the cartilage in a growing child does not form and grow into bone in the usual way. ...
Achondroplasia is a genetic bone growth condition. It mainly affects the long bones of the arms and legs. The word means “without cartilage growth,” but the real problem is not the cartilage itself. ...
Achondrogenesis is a very rare genetic bone growth disorder. It starts before birth. In this condition, the baby’s skeleton does not form normally. The bones are very short, the chest is very small, ...
Acheiropody (also called acheiropodia or Horn-Kolb syndrome) is a very rare genetic condition present from birth in which a baby is born without formed hands and feet on both sides. The upper arms ...
Congenital absence of the hand means a baby is born without a hand. It happens during early pregnancy when the limb does not form fully. The rest of the arm may be normal or may also be shorter or ...
Acheiria means a person is born without one hand (unilateral) or both hands (bilateral). It is a type of congenital limb reduction where the hand does not form in the womb. The forearm bones may be ...
Achalasia–microcephaly is an extremely rare, likely inherited condition in which a child has achalasia (the food pipe does not relax and move food down normally) together with microcephaly (a head ...
Achalasia–microcephaly syndrome (AMS) is an extremely rare genetic disorder in which a child has both achalasia (the food pipe does not relax and push food into the stomach) and microcephaly (a ...
Hypoceruloplasminemia means your blood has less ceruloplasmin than normal. Ceruloplasmin is a copper-carrying enzyme made mainly in the liver. Its most important job is to help iron move safely in ...
