3rd Period Genetic Disorders by Jessica Cichosz

Achondroplasia

cichosz_jessica — 2018-02-12 18:06:35 UTC

1. Phenotype: dwarfism
2. People who are affected usually have normal sized parents.
3. Intelligence and lifespan are normal for those affected.

Cystic Fibrosis

smithash005 — 2018-02-12 18:35:49 UTC

1. Recessive genetic disease 2.their are approximately 30,000 in the united states that are affected with cystic fibrosis 3. affects all kinds of races

Fragile X Syndrome

uskosty_000 — 2018-02-12 18:35:57 UTC

1. Treatment: no treatment
2. it affects about 1 in 4000 males and 1 in 800 females

3: There is currently no cure

Turner Syndrome

marlemar002 — 2018-02-12 18:36:36 UTC

1.) caused by having only 1 X chromosomes humans normally have 2
2.) Some symptoms are delayed puberty, abnormality's in reproductive organs ,kidney malformation, and a lot more.
3.) 98% of babies with turner syndrome die.

Hemophilia

anderkad000 — 2018-02-12 18:37:01 UTC

1.it´s is a blood clot
2.it is a missing or defected factor
3 affected all kind of races

Sickle Cell Anemia

kangashe002 — 2018-02-12 18:37:05 UTC

1.Disease can last for years or lifetime
2. No cure
3. Affects all kinds of races.

Apert Syndrome

demyaili0001 — 2018-02-12 18:37:37 UTC

1. Fingers are toes are fused together.
2. Affects from the skull growing normally.
3. The head is big and fingers and toes are stick together.

Severe Combined Immunodeficiency Disorder(SCID)

worthkar000 — 2018-02-12 18:38:18 UTC

1. 40-100 people are diagnosed with SCID in the United States.
2. The most effective treatment for SCID is a bone marrow transplant.
3. SCID is caused by several possible genes and makes you highly susceptible to life threatening infections by viruses.

Wilson Disease

hughemat000 — 2018-02-12 18:38:53 UTC

1. Symptoms:

Jaundice
Fatigue
Loss of appetite
Swelling in the abdomen
Easy bruising

2. Treated by:

Removing the excess copper from the body.
Reducing intake of foods that are rich in copper.
Treating any liver or central nervous system damage.

3. Inherited by: In this pattern of inheritance, a person needs to inherit two altered (mutated) copies of a gene - one from each parent - to develop the disease.

Progeria

king_dak000 — 2018-02-12 18:39:54 UTC

1. Causes increased aging

2. Affects 4 million newborns worldwide

3.Children with progeria usually die at the age of 13

4. Symptoms include:
slow hair growth and hair loss.

Duane Syndrome

korsunad000 — 2018-02-12 18:40:10 UTC

1. A rare eye movement disorder
2. There is no cure for Duane Syndrome
3. 80% of the people with DS have only one eye affected, most often the left
4. 1-5% of people are affected by Duane Syndrome.

Parkinson's Disease

haralviv000 — 2018-02-12 18:41:35 UTC

1. symptoms:
TREMORS : can occur when resting, in hands or limbs.
Shaking all of the time.

Down Syndrome

smithchr030 — 2018-02-12 18:41:45 UTC

1. symptoms are decreased or poor muscle tone, short neck with excess skin at the back of the neck flattened facial profile and nose, small head ears and mouth, white spots on the colored part of the eyes, wide or short hands with short fingers, a single deep crease across the palm of the hand, also deep groove between the first and second toes. Causes of Down Syndrome are caused by an error in cell division called nondisjunction that leaves a sperm or egg cell with an extra copy of chromosome 21 before or at conception. 3. there is no cure but there is treatment.

Angelman Syndrome

land_der000 — 2018-02-12 18:42:58 UTC

1.No speech or minimal speech. Difficulty walking, moving or balancing
2. Sedative can help with the disorder it helps calm you down and therapy.
3. symptoms of this disorder are problems with movement and balance, small head size, flatness in the back of the head, and frequent laughter.

Spinal Muscular Atrophy

gomezlog000 — 2018-02-12 18:43:48 UTC

1. Resessive
2. Affects about 1 in 10,000 Americans.
3. Makes it harder to breath or swallow

Crohn's Disease

levansky000 — 2018-02-12 19:16:09 UTC

1. Cause is unknown
2. Swelling in the bowel is very painful and causes diarrhea, abnormal pain, nausea and decreased appetite
3. Crohn's Disease is usually diagnosed to people at the age of 20 - 30, and about 25% of people with Crohn's Disease are under the age of 20.

Poland Anomaly

hart_bry000 — 2018-02-12 19:18:33 UTC

1. symptoms: hand and arm abnormalities make the disorder more apparent early in life
2. Treated by: some treatments is reconstructive surgery on the muscles

Familial Mediterranean Fever

gordiann000 — 2018-02-12 19:20:28 UTC

1. Some Symptoms:
- Heart attacks of fever
- Inflammation of the abdominal lining (peritonitis)
- Inflammation of the lining surrounding the lungs (pleurisy)
- Painfully swollen joints (arthralgia and occasionally arthritis )
- Ankle rash
2. Is considered a rare disease world wide, however is very common in people of Sephardi. (Jewish, Armenian, Arab, and Turkish.)
- About 1 in 200 people have Familial Mediterranean Fever.
3. Familial Mediterranean Fever disease is a recessive inherited disease. It only appears in people who received two copies it the mutation a gene that causes FMF , one from each parent.

Holoprosencephaly

browngra000 — 2018-02-12 19:22:19 UTC

1.A common birth defect of the brain.

2.Can cause cleft lips, small head size, and other birth defects.

3. In the most severe cases
holoprosencephaly can cause cyclopia, when a single eye is located where the bridge of the nose would be.

Duchenne Muscular Dystrophy

myersant000 — 2018-02-12 19:22:19 UTC

1. A rare muscle mutation appeared only in boys.

2.Weakenss your muscles so that you cans walk or move your arms.

3. At a young age you cant even see the any symptoms, The older you get the more easier it is to see the symptoms

Alpha-1 Antitrypsin deficiency

jenkialy000 — 2018-02-12 19:23:25 UTC

1.May cause result in lung disease or liver disease
2.May result in shortness of breath, wheezing, or an increased risk of lung infection
3. Outset of Lung problems is typically between 20 and 50 years old

Noonan Syndrome

rowe_chl000 — 2018-02-12 19:27:09 UTC

1. Noonan Syndrome is a disorder that involves unusual facial characteristics.
2. some symptoms are short stature, heart defects at birth, bleeding problem and much more.
3. cures for Noonan Syndrome are growth hormone treatment.
The heart defects can't be fixed, or cured.

Tay-Sachs Disease

contrver000 — 2018-02-12 19:29:10 UTC

1. infants loss motor skill like turning over, sitting and crawling
2. as the disease progresses they start losing vision and hearing
3. sometimes only live to there early childhood

Osteogenesis Imperfecta

lawrerob001 — 2018-02-12 19:30:40 UTC

1: it can change the white in your eyes to blue,purple,or gray tints in the eye.
2: the done is very weak so it can break at little to know cause at all.
3: this mutation is one that can have 6 different stages of how bad this decease.

demyaili0001 — 2018-02-13 18:39:42 UTC

anderkad000 — 2018-02-13 18:40:52 UTC