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 ...

General DiscussionEisenmenger syndrome is a rare progressive heart condition that develops in some individuals with structural malformations of the heart that are present from birth (congenital heart defects). The disorder is characterize...

Atrioventricular septal defect (ASVD) is a general term for a group of rare heart defects that are present at birth (congenital). Infants with ASVDs have improperly developed atrial and ventricular septa and adjoining valves. The norma...

Endocardial fibroelastosis (EFE) is a rare heart disorder that affects infants and children. It is characterized by a thickening within the muscular lining of the heart chambers due to an increase in the amount of supporting connective tissue (ine...

Cardiofaciocutaneous (CFC) syndrome is one of the RASopathies and is a rare genetic disorder is typically characterized by unusually sparse, brittle, curly hair; large head (macrocephaly); a prominent forehead and abnormal narrowing of the sides o...

Formaldehyde is a transitional molecule that participates in a wide range of biological activities. It can be found in a variety of everyday items, including meals. It's also used in medicine to treat a variety of ailments. Formalin is a 40 percen...

If you have hypokalemia, that means you have low levels of potassium in your blood. Potassium is a mineral your body needs to work normally. It helps muscles to move, cells to get the nutrients they need, and nerves to send their signals. It&rsquo...

Red cell pyruvate kinase deficiency is a hereditary blood disorder characterized by a deficiency of the enzyme pyruvate kinase. Physical findings associated with the disorder may include reduced levels of oxygen-carrying hemoglobulin in the blood ...

General DiscussionJervell and Lange-Nielsen syndrome (JLNS) is a rare inherited disorder characterized by deafness present at birth (congenital) occurring in association with abnormalities affecting the electrical system of the heart. The...