Acheiria is a rare congenital disorder characterized by the absence of one or both hands. It is caused by a genetic mutation that affects the development of the hands in the womb. People with Acheiria may have difficulty performing everyday tasks,...

Acheiropodia is a rare congenital disorder in which a person is born without hands or feet. It is caused by a genetic mutation and is usually accompanied by other physical abnormalities....

The most common initial symptom of Achilles tendon rupture is a sudden snap at the back of the heels with intense pain. Immediately after the rupture, the majority of individuals will have difficult walking. Some individuals may hav...

Hereditary spherocytic hemolytic anemia is a rare blood disorder characterized by defects within red blood cells (intracorpuscular) that result in a shortened survival time for these cells. Red blood cells (erythrocytes) normally circulate for a f...

Achondrogenesis is a rare genetic disorder that affects the development of bones in the body. It is a type of skeletal dysplasia, which is a group of disorders that cause abnormal growth and development of the skeleton. People with achondrogenesis...

Achondrogenesis type 1A is a rare genetic disorder that affects the development of bones in the body. It is a type of skeletal dysplasia, which is a group of disorders that cause abnormal growth and development of the skeleton. People with this co...

Achondrogenesis type 1B is a rare genetic disorder that affects the development of bones in the body. It is a type of skeletal dysplasia, which is a group of disorders that cause abnormal growth and development of the skeleton. People with this co...

Achondrogenesis type 2 is a rare genetic disorder that affects the development of bones in the body. It is a form of achondrogenesis, a group of disorders that cause abnormal growth of cartilage and bone. People with achondrogenesis type 2 typical...

Achondroplasia is a genetic disorder that affects bone growth and is the most common form of dwarfism. People with achondroplasia have short arms and legs, a large head, and a prominent forehead. Other features may include a flattened bridge of th...

Achondroplasia imaging is a type of imaging used to diagnose achondroplasia, a genetic disorder that affects bone growth. It involves taking X-rays, CT scans, and MRI scans of the bones and joints to look for signs of the disorder. These images ca...

Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the b...

Pompe disease is a rare multisystem genetic disorder that is characterized by absence or deficiency of the lysosomal enzyme alpha-glucosidase (GAA). This enzyme is required to breakdown (metabolize) the complex carbohydrate glycogen and convert it...

Acid Sphingomyelinase Deficiency (ASMD) is a rare genetic disorder that affects the body's ability to break down a type of fat called sphingomyelin. This fat is found in cell membranes and is important for normal cell function. People with ASMD ha...

Acidemia Isovaleric is an inherited disorder caused by a deficiency of the enzyme isovaleryl-CoA dehydrogenase. This enzyme is responsible for breaking down the amino acid leucine, which is found in many foods. When this enzyme is deficient, leuci...

A rare genetic condition where the body can't process proteins adequately. More specifically, there are insufficient levels of the enzyme needed to break down an amino acid called leucine. This results in a build up of isovaleric acid which can harm ...

Acidemia, methylmalonic is an inherited disorder caused by a deficiency of the enzyme methylmalonyl-CoA mutase. This enzyme is responsible for breaking down certain proteins and fats in the body. Without it, these proteins and fats build up in the...

Acitretin/etretinate embryopathy is a rare condition caused by the use of acitretin or etretinate during pregnancy. These medications are used to treat severe psoriasis and other skin conditions. Exposure to these medications during pregnancy can ...