Wolf-Hirsch Horn Syndrome

Waardenburg Syndrome is a group of genetic conditions that can lead to hearing loss and changes in the color of hair, skin, and eyes (Genetics 2013). Cases of Waardenburg Syndrome are not very common. There are different types of symptoms of the syndrome. Waardenburg Syndrome can be inherited either on an autosomal dominant pattern or autosomal recessive pattern (Calendar 2013). The ways of diagnosing Waardenburg Syndrome include certain tests to detect the disorder. While Waardenburg Syndrome cannot be cured, treatments can be given to lessen the effects. Like other diseases, Waardenburg Syndrome has certain symptoms, inheritance patterns, diagnosis and treatments.

Genetics determine the traits an individual will inherit from their parents. In society today, the role of genetics is crucial; they decide ones physical appearance as well as their personality. However, if there is a mutation located in one of the genes that a child receives it is very likely a deformity will be present. A rare yet fatal defect from a gene mutation such as this is Progeria. This disorder is an unfortunate one that may occur in two forms, either Hutchison-Gilford Progeria or Werner syndrome. Not only do they affect the bone structure and appearance of the child, but they substantially shorten their life spans.

Hutchinson-Gilford Progeria syndrome, also known as HGPS, or Progeria, is a very rare genetic disease caused by a mutation in the cell. In 1886, Jonathan Hutchinson first reported case of a 3 ½ year old boy who had the appearance of an old man. In 1897 Hastings Gilford reported a second case with similar features. However, this mystery disease didn’t have a name until 1904, when it was named after the two men. People who have HGPS usually star showing symptoms by the age of 2, and only live to be a teen-mid-20s.

Excesses vitamin leads to nausea, headache, dizziness, hair, loss, birth defects. Deficiences are night blindness, degeneration of epithelial tissues.

Usher syndrome is a genetic disorder that causes its victims to get retnis pigmentosa (RP), or a disease that affects someone’s retinas resulting in tunnel vision, and hearing loss. The most common gene that becomes mutated is gene USH2A, this is a protein producing gene. It is a mutated recessive gene, meaning that in order to inherit Usher syndrome both parents have to be carriers of it. Once the child gets Usher syndrome, they will experience loss of eyesight and hearing.

The type of Progeria Sam had is called Hutchinson-Gilford Progeria Syndrome, “child Progeria” rather than Werner’s syndrome, also know as “adult Progeria”, that does not occur until late teens, resulting in longer lives into the 40’s-50’s (“Progeria 101/FAQ"). Progeria has a vast amount of symptoms that the majority of those suffering deal with as well as symptoms that are seen less often. Throughout early infancy, children with Progeria resemble normal infants’ physical appearance. Around age 1 or 2 they begin to display extreme growth delay causing them to be short, and have low weight. Their faces appear to be small compared to their head size; furthermore, their faces seem shrunken, wrinkled, and slender. Skulls will have visible veins along the forehead, nose-bridge, as well as the other areas across the head. Other symptoms include having a small jaw, delayed or failed tooth development, deformity of teeth with crowding, beaked nose, prominent eyes, brittle nails, dislocated hips, skeletal defects, and loss of hair, eyebrows, and eyelashes (Chandravanshi et al.). More damaging symptoms are atherosclerosis (hardening of the arteries), cardiovascular issues (strokes heart attacks), arthritis, and osteoporosis (“Progeria 101/FAQ"). The children who have Progeria are very similar in appearance with little effects from various ethnicities (“Progeria 101/FAQ"). Normally the complications of atherosclerosis lead to the deaths of the children around

The most common treatment for all cases of Hirsch sprung disease is surgery which is the best treatment. In this surgery, the section of intestine deprived of the specialized nerves is removed. The segment of intestine that has been shown during an examination of tissue removal from a living body to discover the presence, cause, or extent of a disease is to be normal and then should be pulled down to the anus. (Cincinnati children's

Distortion of the facial features can take place in a newborn with this disorder due to the thick plates of skin

When the protein is diseased, that causes people with Cystic Fibrosis to have digestive problems. The

Noonan Syndrome is the most common syndrome you’ve never heard of. Noonan Syndrome is a genetic disorder that affects normal growth in different parts of the body. It is caused by a genetic mutation that is attained when a child inherits a copy of an affected gene from a parent. It affects a large amount of people all over the world.

Hirschsprung's disease is a birth defect. It results in the intestine becoming obstructed. Before 1948 infants with Hirschsprung's disease died (Hirschsprung's Disease"). Now with treatment, babies with the disease can survive. The disease is defined by its history, symptoms and diagnosis, and treatment. Hirschsprung's disease is a life-threatening birth defect that causes problems with bowel movements but with treatment available today the result is very good.

The disease can also result in various obstructions of the pancreas, hindering digestion (World Health Organization, 2012, p.5).

Bloom syndrome is a very rare syndrome/disease. If you have bloom syndrome then you would have many symptoms. Some of the symptoms are a high pitched voice, narrow face, small lower jaw, a long nose, and prominent ears. The only way to inherit the bloom syndrome is through the genes passed for parents to their children. There are many ways to describe this disease from having a high pitched voice to having a long nose. This disease will decrease the survival rate enormously, because it may cause cancer and being diabetic. Clearly,

Being treated though can reduce a lot of the health problems that come along with it. Like stated earlier on in the paper, people with this disorder need to follow a strict diet that limits the phenylalanine that they take in. These people need to avoid the high protein foods as much as possible. Some of the foods with high protein include: milk and cheese, eggs, nuts, beans, chicken, beef, pork, fish, and peas. Some fruits and vegetables also fall under this category. Each person with this disorder is different when it comes to how much phenylalanine is safe for them to consume. Because of this, each person gets a special individualized diet they need to follow. These people won’t be getting enough of the essential nutrients that they need from food, so along with their diet, they have to drink a special formula everyday. This formula helps them meet their nutritional needs. Additional treatments for PKU are being explored. Another option that is being looked at is using gene therapy. (NIH, 2012)

Unexplained fatigue, brittle, dry hair, ridged or spoon shaped nails, mouth problems, diarrhea, irritability or lack or appetite can all indicate nutrient deficiencies