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...

Batten Turner Type Congenital Myopathy is an extremely rare, inherited muscle disease (myopathy) and is characterized by the lack of muscle tone or floppiness at birth (congenital hypotonia). The symptoms of Batten Turner Type Congenital Myopathy ...

Crohn's disease facts Crohn's disease is a chronic inflammatory disease of the intestines. The cause of Crohn's disease is unknown. Crohn's disease can cause ulcers in the small intestine, colon, or both. ...

Hypercalcemia Introduction Calcium is a mineral that is important in the regulation and processes of many body functions including bone formation, hormone release, muscle contraction, and nerve and brain function. Hypercalcemia is the term...

Sakati syndrome is an extremely rare disorder that belongs to a group of rare genetic disorders known as "Acrocephalopolysyndactyly" (ACPS). All forms of ACPS are characterized by premature closure of the fibrous joints (cranial sutures) between c...

The spinal muscular atrophies (SMAs), are characterized by degeneration of nerve cells (motor nuclei) within the lowest region of the brain (lower brainstem) and certain motor neurons in the spinal cord (anterior horn cells) leading to muscle weak...

Valinemia is a very rare metabolic disorder. It is characterized by elevated levels of the amino acid valine in the blood and urine caused by a deficiency of the enzyme valine transaminase. This enzyme is needed in the breakdown (metabolism) of va...