Osteopetrosis may be inherited as either a dominant or recessive trait and is marked by increased bone density, brittle bones, and, in some cases, skeletal abnormalities. Although symptoms may not initially be apparent in people with mild forms of...

Bronchitis is an infection that causes irritation and inflammation in the lungs' major airways (bronchi). Bronchitis is divided into two types: acute and chronic. Chronic bronchitis is a long-term condition that can reoccur. Long-term stress, such...

Bronchitis is an infection that affects the lungs' major airways (bronchi), causing irritation and inflammation. Bronchitis can be classified into two types: acute and long-term. Chronic bronchitis is a long-term problem that can come back. It is usu...

Chickenpox (varicella) is a viral infection that causes an itchy rash with small, fluid-filled blisters. Chickenpox is highly contagious to people who haven't had the disease or been vaccinated against it. Before routine chickenpox vaccination, vi...

Ulcerative colitis (UL-sur-uh-tiv koe-LIE-tis) is an inflammatory bowel disease ...

Ulcerative colitis (UL-sur-uh-tiv koe-LIE-tis) is an inflammatory bowel disease (IBD) that causes inflammation and ulcers (sores) in your digestive tract. Ulcerative colitis affects the innermost lining of your large intestine (colon) and rectum. ...

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. ...

Dysthymia, now referred to as persistent depressive disorder, is a form of depression that lasts more than two years at a time in adults and more than one year at a time in children and adolescents. Dysthymia can afflict 3%-6% of th...

Ehlers-Danlos syndrome (EDS) is a group of hereditary connective tissue disorders characterized by defects of the major structural protein in the body (collagen). Collagen, a tough, fibrous protein, plays an essential role in holding together, str...

Ehlers-Danlos syndrome (EDS) is a group of hereditary connective tissue disorders characterized by defects of the major structural protein in the body (collagen). Collagen, a tough, fibrous protein, plays an essential role in holding together, str...

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...

The largest part of the brain, the cerebrum, is divided into four paired sections -- the frontal, parietal, occipital, and temporal lobes. Each lobe controls a specific group of activities. The temporal lobe, located on either side of the brain ju...

The largest part of the brain, the cerebrum, is divided into four paired sections -- the frontal, parietal, occipital, and temporal lobes. Each lobe controls a specific group of activities. The temporal lobe, located on either side of the brain ju...

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...

Andersen disease belongs to a group of rare genetic disorders of glycogen metabolism, known as glycogen storage diseases. Glycogen is a complex carbohydrate that is converted into the simple sugar glucose for the body's use as energy. Glycogen sto...

Introduction to heart transplant The idea of replacing a bad organ with a good one has been documented in ancient mythology. The first real organ transplants were probably skin grafts that may have been done in India as early as the second...

Papular urticaria, usually called hives, is characterized by large numbers of very itchy red bumps (papules) that come and go every few days over a period of a month or so. The bumps are usually between 0.2 and 2 cm. in size and some may develop i...

Biotinidase deficiency (BTD) is a treatable, metabolic disorder that is the result of a low concentration, or complete lack, of the enzyme, biotinidase. Biotinidase deficiency is an inherited disorder in which the body is not able to properly proc...

Thyroid disease is particularly common in women of child-bearing age. As a result, it is no surprise that thyroid disease may complicate the course of pregnancy. Frequency varies among different populations and different c...

General DiscussionPediatric cardiomyopathy is a rare heart condition that affects infants and children. Specifically, cardiomyopathy means disease of the heart muscle (myocardium). Several different types of cardiomyopathy exist and the s...

Infant respiratory distress syndrome is a lung disorder that tends to affect premature infants. Major symptoms include difficulty in breathing and collapsed lungs, potentially requiring mechanical ventilation or positive end-expiratory pressure (P...

Jarcho-Levin syndrome is a rare genetic disorder characterized by distinctive malformations of bones of the spinal column (vertebrae) and the ribs, respiratory insufficiency, and/or other abnormalities. Infants born with Jarcho-Levin syndrome have...

Kyphosis facts There are three main types of kyphosis: postural, Scheuermann's, and congenital. Most cases of kyphosis do not require any treatment. Physical therapy and exercise are often effective in postural a...

Marinesco-Sjogren syndrome (MSS) is a rare genetic disorder that affects multiple organ systems of the body. Common symptoms include difficulty coordinating voluntary movements due to degeneration (atrophy) of the cerebellum (cerebellar ataxia), c...

Mumps is a contagious viral infection that primarily affects the salivary glands, causing swelling and pain in the cheeks and jaw. It is spread through respiratory droplets, such as coughing or sneezing, and can also be transmitted through close p...

Renal cell carcinoma is a form of kidney cancer. Some patients with renal cell carcinoma do not have symptoms (asymptomatic). When symptoms are present, they may include blood in the urine; urine that is brown or rusty-colored; abdominal pain; wei...

Nephrogenic diabetes insipidus (NDI) is a rare kidney disorder that may be inherited or acquired. NDI is not related to the more common diabetes mellitus (sugar diabetes), in which the body does not produce or properly use insulin. NDI is a distin...

General DiscussionPediatric cardiomyopathy is a rare heart condition that affects infants and children. Specifically, cardiomyopathy means disease of the heart muscle (myocardium). Several different types of cardiomyopathy exist and the s...