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	Turner Syndrome Turner syndrome (TS) is a medical disorder that affects about 1 in every 2,500 girls. Most girls are born with two X chromosomes, but girls with Turner syndrome are born with only one X chromosome or they are missing part of one X chromosome. It all depends on how many of the body's cells are affected by the changes to the X chromosome. People with TS are all different. Some may have many physical differences and symptoms, whereas others experience only a few medical problems. Because Turner syndrome can affect how a girl looks and develops, some girls may have problems with body image or self-esteem. With early and appropriate medical care and ongoing support, most people with TS can lead normal, healthy, and productive lives. Health Problems (may be present): Short in height Nearly all have Infertility Most girls don’t achieve puberty (no breast development or menstruation) Kidney problems High blood pressure Heart problems Overweight Hearing difficulties Diabetes Thyroid problems Learning difficulties, particularly in math. map reading or visual organization. Physical features: A "webbed" neck (extra folds of skin extending from the tops of the shoulders to the sides of the neck) A low hairline at the back of the neck Drooping of the eyelids Differently shaped ears that are set lower on the sides of the head than usual Abnormal bone development (especially the bones of the hands and elbows) A larger than usual number of moles on the skin Edema or extra fluid in the hands and feet Prader Willi Syndrome What is Prader-Willi syndrome? Prader-Willi syndrome (PWS) is the most common known genetic cause of life-threatening obesity in children. It occurs in males and females equally and in all races. Prevalence estimates have ranged from 1:8,000 to 1:25,000 with the most likely figure being 1:15,000. Features: Low muscle tone ,short stature incomplete sexual development chronic feeling of hunger that Can lead to excessive eating and life-threatening obesity Average IQ is 70, but even those with normal IQs almost all have learning issues Social and motor deficits also exist At birth the infant typically has low birth weight, weak muscles and difficulty sucking Can lead to failure to thrive With help, people with PWS can expect to accomplish many of the things their "normal" peers do—complete school, achieve in their outside areas of interest, be successfully employed, even move away from their family home. Although in the past many people with PWS died in adolescence or young adulthood, prevention of obesity can enable those with the syndrome to live a normal lifespan. Osteogensis Imperfecta (Brittle Bone Disease) Definition Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. OI is caused by genetic defects that affect the body’s ability to make strong bones. Skeletal Dysplasia Skeletal dysplasias are actually more than 380 conditions that involve abnormally developed bones and connective tissues. (The word dysplasia has Latin roots meaning bad growth.) The causes of skeletal dysplasias can be due to many types of genetic abnormalities that are often difficult to determine as well as to treat. Skeletal dysplasias are caused by genetic mutations and can run in families. Often the disorders appear without any family history of skeletal dysplasia. Features: The specific symptoms will vary with the type of skeletal dysplasia and its cause. In general, skeletal dysplasia is associated with abnormalities in the size and shape of arms, legs, the trunk or the skull. As a result a person with skeletal dysplasia maybe unusually short with limbs that are out of proportion to the rest of the body. Celiac Disease What is celiac disease? Celiac disease is a digestive disease that damages the small intestine and interferes with absorption of nutrients from food. People who have celiac disease cannot tolerate gluten, a protein in wheat, rye, and barley. Gluten is found mainly in foods but may also be found in everyday products such as medicines, vitamins, and lip balms. Features: Abdominal bloating and pain Chronic diarrhea Vomiting Constipation Pale, foul-smelling, or fatty stool Weight loss Irritability is another common symptom in children. Failure to thrive in infants Delayed growth Short stature Delayed puberty Teething defects People with celiac disease tend to have other diseases in which the immune system attacks the body’s healthy cells and tissues. The connection between celiac disease and these diseases may be genetic. They include Type 1 diabetes Autoimmune thyroid disease Autoimmune liver disease Rheumatoid arthritis Addison’s disease, a condition in which the glands that produce critical hormones are damaged Sjögren’s syndrome, a condition in which the glands that produce tears and saliva are destroyed Obesity / Metabolic Syndrome What is obesity? Obesity is what doctors call it when you have too much body fat. Obesity can lead to health problems. If more than 25% of a boy's total weight is fat, then he is classified as being obese. For a girl, it is more than 32%. Why is it more for girls? Because girls have a different body shape. Causes of obesity in children If parents are overweight, children can often be overweight too. Part of this is due to genes and part is due to the family's pattern of eating and exercise. Being overweight during the first 4 years of life means you are more likely to be overweight or obese later on. An unhealthy diet is a major cause of obesity - especially eating fatty foods or eating too much food, even if it is good food. Not getting enough exercise is a major contributor to obesity - eg. sitting around a lot, or watching TV for more than an hour a day. Not getting enough sleep can affect the body's hormones and make a person more likely to become obese. Problems caused by obesity There are many health problems which can be caused by obesity. Coronary heart disease, diabetes, and damage to weight-bearing joints (such as your knees) are the main ones. Addison's Disease What is Addison’s disease? Addison’s disease occurs when your body’s adrenal glands do not produce enough hormones. The adrenal glands are part of your body’s endocrine system, a group of glands that produce and secrete hormones to regulate your body’s processes. Causes: Tuberculosis Other infections of the adrenal glands Spread of cancer to the adrenal glands Bleeding into the adrenal glands It can be caused by a diseased pituitary gland Symptoms: Muscle weakness and worsening fatigue Weight loss and decreased appetite Darkening of the skin (hyper pigmentation) Low blood pressure, even fainting Salt craving Low blood sugar (hypoglycemia) Nausea, diarrhea or vomiting Irritability Depression In women: irregular menstrual periods Sometimes, the symptoms of Addison’s disease appear suddenly. This is called acute adrenal failure or Addisonian crisis and it can be fatal if it isn't treated. The symptoms may include: Pain in the lower back, abdomen or legs Severe vomiting and diarrhea, leading to dehydration Low blood pressure Loss of consciousness				It is easy to sponsor the treatment of a patient. Learn more Help us to save diabetic children’s lives by donating today.