Health and Fitness

  Rubella virus Overview Rubella is a contagious viral infection best known by its distinctive red rash. It's also called German measles or three-day measles. This infection may cause mild or no symptoms in most people. However, it can cause serious problems for unborn babies whose mothers become infected during pregnancy. Rubella isn't the same as measles, but the two illnesses share some signs and symptoms, such as the red rash. Rubella is caused by a different virus than measles, and rubella isn't as infectious or as severe as measles. The measles-mumps-rubella (MMR) vaccine is safe and highly effective in preventing rubella. The vaccine provides lifelong protection against rubella. In many countries, rubella infection is rare or even nonexistent. However, because the vaccine isn't used everywhere, the virus still causes serious problems for babies whose mothers are infected during pregnancy. Symptoms The signs and symptoms of rubella are often difficult to notice, ...

 Apert Syndrome Summary Apert syndrome is a rare genetic condition that is apparent at birth. People with Apert syndrome can have distinctive malformations of the skull, face, hands, and feet. Apert syndrome is characterized by craniosynostosis, a condition in which the fibrous joints (sutures) between bones of the skull close prematurely. This can cause the top of the head to appear pointed and can affect facial bones. Certain fingers or toes may be fused or webbed. Affected children may also have intellectual disability. The severity of symptoms varies between individuals. Apert syndrome almost always results from new genetic changes (mutations) that occur randomly. Rarely, it is inherited in an autosomal dominant pattern. People with Apert syndrome can undergo therapies that address specific symptoms. This could include reconstructive skull, facial, hand, and foot surgeries. Introduction Apert syndrome is a type of acrocephalosyndactyly (ACS known as acrocephalosyndactyly type 1...

  Aplasia Cutis Congenita DISEASE OVERVIEW Aplasia Cutis Congenita is a rare disorder with a complicated pattern of inheritance. Babies are born with the absence of certain layer(s) of skin, most often on the scalp, but also on the trunk, and/or arms and legs. The affected area is typically covered with a thin, transparent membrane. The skull and/or underlying areas may be visible and be abnormally developed. Aplasia Cutis Congenita may be the primary disorder or it may occur in association with other underlying disorders. SIGNS & SYMPTOMS Individuals born with Aplasia Cutis Congenita lack skin (and therefore hair), in localized areas of the body, usually, but not always, on the scalp (70 percent of cases). In some cases, the trunk, arms, and/or legs may also be involved. Sometimes, the underlying bone may be missing as well as the skin. The affected area(s) are usually replaced with a thin transparent membrane. In some cases, these affected structures and other organs may be s...

 Acid Sphingomyelinase Deficiency   SUMMARY Acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder that results from a deficiency of the enzyme acid sphingomyelinase, which is required to break down (metabolize) a fatty substance (lipid) called sphingomyelin. Consequently, sphingomyelin and other substances accumulate in various tissues of the body. ASMD is highly variable and the age of onset, specific symptoms and severity of the disorder can vary dramatically from one person to another, sometimes even among members of the same family. The disorder may be best thought of as a spectrum of disease. At the severe end of the spectrum is a fatal neurodegenerative disorder that presents in infancy (Niemann-Pick disease type A). At the mild end of the spectrum, affected individuals have no or only minimal neurological symptoms and survival into adulthood is common (Niemann-Pick disease type B). Intermediate forms of the disorder exist as well. ASMD is caused...

  Mesothelioma Overview Malignant mesothelioma (me-zoe-thee-lee-O-muh) is a type of cancer that occurs in the thin layer of tissue that covers the majority of your internal organs (mesothelium). Mesothelioma is an aggressive and deadly form of cancer. Mesothelioma treatments are available, but for many people with mesothelioma, a cure isn't possible. Doctors divide mesothelioma into different types based on what part of the mesothelium is affected. Mesothelioma most often affects the tissue that surrounds the lungs (pleura). This type is called pleural mesothelioma. Other, rarer types of mesothelioma affect tissue in the abdomen (peritoneal mesothelioma), around the heart and around the testicles. Symptoms Signs and symptoms of mesothelioma vary depending on where the cancer occurs. Pleural mesothelioma, which affects the tissue that surrounds the lungs, causes signs and symptoms that may include: *Chest pain *Painful coughing *Shortness of breath *Unusual lumps of tissue under the...

  Chester Porphyria Overview Porphyria (por-FEAR-e-uh) refers to a group of rare disorders that result from a buildup of natural chemicals called porphyrins in the body. Porphyrins are needed to make heme, a part of hemoglobin. Hemoglobin is a protein in red blood cells. It carries oxygen to the body's organs and tissues. Eight enzymes are needed to change porphyrins into heme. Without enough of any of these enzymes, porphyrins build up in the body. High levels of porphyrins can cause major problems, mainly in the nervous system and skin. There are two general types of porphyrias. Acute porphyrias start rapidly and mainly affect the nervous system. Cutaneous porphyrias mainly affect the skin. A few types of porphyrias affect both the nervous system and the skin. Symptoms of porphyria vary, depending on the specific type of porphyria and how severe it is. Porphyria is usually inherited. One or both parents pass along a changed gene to their child. Although porphyria can't be cur...

 Fanconi Anemia Summary Fanconi anemia (FA) is a rare genetic disorder, in the category of inherited bone marrow failure syndromes. Half the patients are diagnosed prior to age 10, while about 10% are diagnosed as adults. Early diagnoses are facilitated in patients with birth defects, such as small size, abnormal thumbs and/or radial bones, skin pigmentation, small heads, small eyes, abnormal kidney structures, and cardiac and skeletal anomalies. The disorder is often associated with a progressive deficiency of all bone marrow production of blood cells, red blood cells, white blood cells, and platelets. Affected individuals have an increased risk of developing a cancer of blood-forming cells in the bone marrow called acute myeloid leukemia (AML), or tumors of the head, neck, skin, gastrointestinal system, or genital tract. FA occurs equally in males and females, and is found in all ethnic groups. It is usually inherited as an autosomal recessive genetic disorder, but X-linked inher...