Health and Fitness

Dubowitz Syndrome Summary Dubowitz syndrome is a very rare genetic and developmental disorder with a broad range of signs and symptoms. The typical findings of Dubowitz syndrome include growth failure/short stature, characteristic facial features such as a small triangular face, high sloping forehead, drooping eyelid (ptosis), short eyelids, increased distance between eyes (hypertelorism) broad and flat nasal bridge with a prominent and rounded nasal tip, smaller than normal head (microcephaly), intellectual disability, and eczema, especially on the face and behind the knees. Other common findings are behavioral disorders (hyperactivity, and/or autistic features), speech alterations, scanty or absent hair, foot abnormalities, delayed bone age, bone defects of the lower part of the spine (sacrum and coccyx), testicles that are still not located in the scrotum (cryptorchidism), memory and / or learning problems. There may be an increased risk of having cancer such as leukemia, or lymphom...

Overview Dubin Johnson syndrome (DJS) is a rare, benign genetic liver disorder. It is inherited in an autosomal recessive pattern and is characterized by buildup of bilirubin, which is normally excreted by the liver into the bile. DJS is caused by a defect (gene mutation) in the transporter protein that is responsible for moving the bilirubin, a normal breakdown product of red blood cells, into the bile which then leaves the body through the stool. It is a rare entity that is most often seen in Middle Eastern Jewish and Japanese people. In the Jewish population, about 60% of affected individuals also have an associated blood clotting abnormality, a prolonged prothrombin time (PT), caused by a decrease in factor VII. Most patients are asymptomatic and the other tests that are routinely used to measure liver function are normal. At times there can be jaundice, a yellowish color of the white portion of the eyes, and rarely a slightly enlarged and tender liver. A characteristic aspect of D...

Polycystic Ovary Syndrome (PCOS) Overview  Polycystic ovary syndrome (PCOS) is a hormonal imbalance that occurs when your ovaries (the organ that produces and releases eggs) create excess hormones. If you have PCOS, your ovaries produce unusually high levels of hormones called androgens. This causes your reproductive hormones to become imbalanced. As a result, people with PCOS often have irregular menstrual cycles, missed periods and unpredictable ovulation. Small follicle cysts (fluid-filled sacs with immature eggs) may be visible on your ovaries on ultrasound due to lack of ovulation (anovulation). However, despite the name "polycystic," you don’t need to have cysts on your ovaries to have PCOS. The ovarian cysts aren’t dangerous or painful. PCOS is one of the most common causes of infertility in women and people assigned female at birth (AFAB). It can also increase your risk of other health conditions. Your healthcare provider can treat PCOS based on your symptoms and if y...

overview  Prion diseases, such as Creutzfeldt-Jakob disease, occur when prion protein, which is found throughout the body but whose normal function isn't yet known, begins folding into an abnormal three-dimensional shape. This shape change gradually triggers prion protein in the brain to fold into the same abnormal shape. Creutzfeldt-Jakob disease causes a type of dementia that gets worse unusually fast. More common causes of dementia, such as Alzheimer's, dementia with Lewy bodies and frontotemporal dementia, typically progress more slowly. Through a process scientists don't yet understand, misfolded prion protein destroys brain cells. Resulting damage leads to rapid decline in thinking and reasoning as well as involuntary muscle movements, confusion, difficulty walking and mood changes. Creutzfeldt-Jakob disease is rare, occurring in about one in 1 million people annually worldwide. Experts generally recognize the following main types of Creutzfeldt-Jakob disease: Sporadi...

overview Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects. Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years. Girls and women with Turner syndrome need ongoing medical care from a variety of specialists. Regular checkups and appropriate care can help most girls and women lead healthy, independent lives. Symptoms Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, several physical features are apparent early. Signs and symptoms can be...

Overview Multiple endocrine neoplasia, type 1 (MEN 1), sometimes called Wermer's syndrome, is a rare disorder that causes tumors in the endocrine glands and parts of the small intestine and stomach. In MEN 1, the endocrine glands — usually the parathyroids, pancreas and pituitary — grow tumors and release excessive amounts of hormones that can lead to disease. However, the tumors are usually noncancerous (benign). The excess hormones can cause a wide variety of signs and symptoms. These can include tiredness, bone pain, broken bones, kidney stones, and ulcers in the stomach or intestines. MEN 1 can't be cured. But regular testing can detect problems, and doctors can provide treatment as needed. MEN 1 is an inherited disorder. This means people who have the gene mutation can pass it on to their children. Each child has a 50% chance of inheriting the disorder. Symptoms  Signs and symptoms of MEN 1 include the following: MEN type 1-associated symptoms depend on which glands are af...

SUMMARY Duane syndrome (DS) is an eye movement disorder present at birth (congenital) characterized by horizontal eye movement limitation: a limited ability to move the eye inward toward the nose (adduction), outward toward the ear (abduction), or in both directions. When the affected eye(s) moves inward toward the nose, the eyeball retracts (pulls in) and the eye opening (palpebral fissure) narrows. In some patients, when the eye attempts to look inward, it moves upward (upshoot) or downward (downshoot). Duane syndrome falls under the larger heading of strabismus (misalignment of the eyes) under the sub-classification of incomitant strabismus (misalignment of the eyes that varies with gaze directions) and subheading of what was previously termed extraocular fibrosis syndromes (conditions associated with fibrosis of the muscles that move the eyes), now termed congenital cranial dysinnervation disorders (CCDDs). The CCDDs are a group of congenital neuromuscular diseases resulting from d...

Hashimoto’s disease is an autoimmune disorder that can cause hypothyroidism, or underactive thyroid. Rarely, the disease can cause hyperthyroidism, or overactive thyroid. The thyroid is a small, butterfly-shaped gland in the front of your neck. In people with Hashimoto’s disease the immune system makes antibodies that attack the thyroid gland large numbers of white blood cells, which are part of the immune system, build up in the thyroid the thyroid becomes damaged and can’t make enough thyroid hormones Thyroid hormones control how your body uses energy, so they affect nearly every organ in your body—even the way your heart beats. Overview Hashimoto's disease is an autoimmune disorder affecting the thyroid gland. The thyroid is a butterfly-shaped gland located at the base of the neck just below the Adam's apple. The thyroid produces hormones that help regulate many functions in the body. An autoimmune disorder is an illness caused by the immune system attacking healthy tissues....