Aarskog syndrome 02/05/2008
Aarskog syndrome is an inherited disease that affects a person's height, muscles, skeleton, genitals, and appearance of the face. Inherited means that it is passed down through families.
Causes, incidence, and risk factors: Aarskog syndrome is a genetic disorder. It affects mainly males, but females may have a milder form. The condition is caused by changes (mutations) in a gene called "faciogenital dysplasia" (FGDY1).
Symptoms: Belly button that sticks out Bulge in the groin or scrotum (inguinal hernia ) Delayed sexual maturation Delayed teeth Downward palpebral slant to eyes Hairline with a "widow's peak" Mildly sunken chest ( pectus excavatum ) Mild to moderate mental problems Mild to moderate short stature which may not be obvious until the child is 1 - 3 years old Poorly developed midportion of the face Rounded face "Shawl" scrotum , testicles that have not come down (undescended) Short fingers and toes with mild webbing Single crease in palm of hand Small, broad hands and feet with short fingers and curved-in 5th finger Small nose with nostrils tipped forward Top portion of the ear folded over slightly Wide groove above the upper lip, crease below the lower lip Wide-set eyes with droopy eyelids
Signs and tests: Genetic testing for mutations in the FGDY1 gene X-rays
Treatment: Moving the teeth (orthodontic treatment) may be done for some of the abnormal facial features.
Aase syndrome 08/11/2009
Aase-Smith syndrome; Hypoplastic anemia/Triphalangeal thumb syndrome
Causes, incidence, and risk factors: Most cases of Aase syndrome occur without a known reason and are not passed down through families (inherited). However, some cases have been shown to be inherited. The anemia in Aase syndrome is caused by poor development of the bone marrow, which is where blood cells are formed.
Abdominal aortic aneurysm 08/28/2008
Aneurysm - aortic
Causes, incidence, and risk factors: The exact cause is unknown, but risk factors for developing an aortic aneurysm include: Emphysema Genetic factors High blood pressure High cholesterol Obesity Male gender Smoking An abdominal aortic aneurysm can develop in anyone, but is most often seen in males over 60 who have one or more risk factors.
ABO incompatibility 05/13/2008
ABO incompatibility is a reaction of the immune system that occurs if two different and not compatible blood types are mixed together.
Causes, incidence, and risk factors: A, B, and O are the three major blood types. The types are based on small substances (molecules) on the surface of the blood cells. In people who have different blood types, these molecules act as immune system triggers (antigens). Each person has a combination of two of these surface molecules. Type O lacks any molecule.
An abscess is a localized collection of pus in any part of the body that is surrounded by swelling (inflammation).
Causes, incidence, and risk factors: Abscesses occur when an area of tissue becomes infected and the body's immune system tries to fight it. White blood cells move through the walls of the blood vessels into the area of the infection and collect within the damaged tissue. During this process, pus forms. Pus is the build up of fluid, living and dead white blood cells, dead tissue, and bacteria or other foreign substances.
Absent pulmonary valve 03/07/2008
Absent pulmonary valve syndrome; Congenital absence of the pulmonary valve; Pulmonary valve agenesis
Causes, incidence, and risk factors: Absent pulmonary valve occurs when the pulmonary valve doesn’t develop properly while the baby is in the mother’s womb.
Acanthosis nigricans 07/11/2008
Acanthosis nigricans is a skin disorder characterized by dark, thick, velvety skin in body folds and creases.
Causes, incidence, and risk factors: Acanthosis nigricans can affect otherwise healthy people, or it can be associated with medical problems. Some cases are genetically inherited. It is most common among people of African descent. Obesity can lead to acanthosis nigricans, as can many endocrine disorders. It is frequently found in people with diabetes . Some drugs, particularly hormones such as human growth hormone or oral contraceptives ("the pill"), can also cause acanthosis nigricans.
Causes, incidence, and risk factors: The main problem in achalasia is a failure of the a muscular ring where the esophagus and stomach come together (lower esophageal sphincter) to relax during swallowing. Another part of the disorder is a lack of nerve stimulation to the muscles of the esophagus.
Achilles tendinitis 07/29/2008
Tendinitis of the heel
Causes, incidence, and risk factors: There are two large muscles in the calf, the gastrocnemius, and soleus. These muscles generate the power for pushing off with the foot or going up on the toes. The large Achilles tendon connects these muscles to the heel. These are important muscles for walking.
Achondrogenesis is a rare type of growth hormone deficiency in which there is a defect in the development of bone and cartilage.
Causes, incidence, and risk factors: Achondrogenesis is inherited, which means it is passed down through families. Some types are known to be recessive, meaning both parents carry the defective gene and the chance for a subsequent child to be affected is about 25%.
Symptoms: Very short trunk, arms, legs and neck Head appears large in relation to the trunk Small lower jaw Narrow chest
Signs and tests: X-rays show bone problems associated with the condition.