Torn anterior cruciate ligament (ACL) facts The anterior cruciate ligament is one of the four ligaments in the knee that provides stabilization. Torn ACLs are a common knee injury. An ACL tear or sprain occurs wh...

Binswanger's disease (BD), also called subcortical vascular dementia, is a type of dementia caused by widespread, microscopic areas of damage to the deep layers of white matter in the brain. The damage is the result of the thickening and narrowing...

Microvillus inclusion disease is an extremely rare inherited intestinal disorder (enteropathy) that is typically apparent within hours or days after birth. The disorder is characterized by chronic, severe, watery diarrhea and insufficient absorpti...

Determining hearing loss in children facts Children can be tested for hearing loss at any age. There are several risk factors associated with hearing loss, including ear infections, prematurity, diseases, and syndromes....

Dislocated ankle facts An isolated dislocated ankle is a rare injury. Usually, there is an associated fracture of the bones that make up the ankle. The ankle dislocates as a result of a fall, motor-vehicle crash, or sporti...

Trismus-Pseudocamptodactyly Syndrome is a very rare inherited disorder characterized by the inability to completely open the mouth (trismus), causing difficulty with chewing (mastication) and/or the presence of abnormally short muscle-tendon units...

Rapp-Hodgkin syndrome, an extremely rare inherited multisystem disorder that is apparent at birth (congenital) or during infancy, belongs to a group of diseases known as ectodermal dysplasias. Ectodermal dysplasias typically affect the skin, teeth...

Johanson-Blizzard syndrome (JBS) is an extremely rare genetic disorder that affects multiple organ systems of the body. Many symptoms are present at birth (congenital) or early childhood. The spectrum of potential features and physical findings as...

Schindler disease is a rare inherited metabolic disorder characterized by the deficient activity of the lysosomal enzyme alpha-N-acetylgalactosaminidase (alpha-NAGA or alpha-galactosidase B). The enzyme defect leads to the abnormal accumulation of...

What Is Restrictive Cardiomyopathy? Restrictive cardiomyopathy, the rarest form of cardiomyopathy, is a condition in which the walls of the lower chambers of the heart (the ventricles) are abnormally rigid and lack the flexibility to expan...

Restrictive cardiomyopathy, the rarest form of cardiomyopathy, is a condition in which the walls of the lower chambers of the heart (the ventricles) are abnormally rigid and lack the flexibility to expand as the ventricles fill with blood. ...

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...

General DiscussionRetroperitoneal fibrosis is a rare inflammatory disorder in which abnormal formation of fiber-like tissue (fibrosis) occurs behind the membrane that lines the cavity of the abdomen (peritoneum). This abnormal tissue grow...

Familial dysautonomia is a rare genetic disorder of the autonomic nervous system (ANS) that primarily affects people of Eastern European Jewish heritage. It is characterized by diminished sensitivity to pain, lack of overflow tearing in the eyes, ...

Esophageal atresia (EA) is a rare birth defect in which the esophagus (the tube that connects the throat with the stomach) does not develop normally. In infants with EA, the esophagus is usually separated into two parts, an upper and lower segment...

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...

What is a ventricular septal defect (VSD)? A ventricular septal defect (VSD) is a heart malformation present at birth. Any condition that is present at birth can also be termed a "congenital" condition. A VSD, therefore, is a type of conge...

What is a ventricular septal defect (VSD)? A ventricular septal defect (VSD) is a heart malformation present at birth. Any condition that is present at birth can also be termed a "congenital" condition. A VSD, therefore, is a type of conge...

General DiscussionWilliams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of ...