Aceruloplasminemia is a rare genetic disorder that affects the body's ability to metabolize iron. It is caused by a mutation in the ceruloplasmin gene, which is responsible for producing the ceruloplasmin protein. This protein helps the body to st...

Acetazolamide-responsive myotonia is a rare genetic disorder characterized by muscle stiffness and spasms. It is caused by a mutation in the CLCN1 gene, which is responsible for the production of a chloride channel in muscle cells. Symptoms of thi...

Cayler syndrome, also known as "asymmetric crying facies with cardiac defects," is an extremely rare disorder characterized by congenital heart defects and the underdevelopment or absence of one of the muscles that control the movements of the low...

Cayler syndrome, also known as "asymmetric crying facies with cardiac defects," is an extremely rare disorder characterized by congenital heart defects and the underdevelopment or absence of one of the muscles that control the movements of the low...

Achalasia is a rare disease of the muscle of the esophagus (swallowing tube). The term achalasia means "failure to relax" and refers to the inability of the lower esophageal sphincter (a ring of muscle situated between the lower esophagus and the ...

Achalasia is a rare disorder of the esophagus, the tube that carries food from the throat to the stomach. It is caused by a problem with the nerves and muscles that control swallowing. Symptoms of achalasia include difficulty swallowing, chest pai...

Achalasia imaging is a type of imaging used to diagnose achalasia, a disorder of the esophagus. It involves taking X-rays, CT scans, or MRI scans of the esophagus to look for any abnormalities. The images can help doctors diagnose achalasia and de...

Achalasia-microcephaly syndrome is a rare genetic disorder characterized by achalasia, a disorder of the esophagus, and microcephaly, a condition in which the head is abnormally small. Symptoms of the disorder include difficulty swallowing, poor w...

Achard Thiers Syndrome is a rare endocrine disorder that affects women. It is characterized by the presence of ovarian cysts, hirsutism (excessive hair growth), and amenorrhea (absence of menstrual periods). It is caused by an excess of androgens ...

Achard-Thiers syndrome is a rare disorder that occurs primarily in postmenopausal women and is characterized by type 2 (insulin-resistant) diabetes mellitus and signs of androgen excess. The exact cause of this syndrome is unknown....

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...