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S: Human Genetic Disorder Book 4A Volume 1

FC: Human Genetic Disorder Book | Block: 4A

1: Table of Contents 1.Angleman Syndrome; Kolbe - 2-3 2.Methemoglobinemia; Lindsey - 4-5 3.SCID; Amanda - 6-7 4. Progeria; Quinnie - 8-9 5. Sickle-Cell Anemia; Nick - 10-11 6. Trisomy 13; Sherman - 12-13 7. Neurofibromatosis;Jezreel - 14-15 8. XP; Julia - 16-17 9. Hemophilia; Zach W. - 18-19 10. Cystic Fibrosis; Sindy - 20-21 11. Albinism; Zak P. - 22-23 12. Lesch-Nyhan; Dee Dee - 24-25 13. Cri-du-Chat; Paige - 26-27 14. Down Syndrome; Jesus - 28-29 15. Tay-Sachs; Tyler - 30-31 16. MSUD; Joseph - 32-33 17. Adrenoleukodystrophy; John - 34-35 18. Marfan Syndrome; Brandon - 36-37

2: ANGELMAN SYNDROME | What is it?: a genetic disease that causes intellectual disabilities, speech impairment, and seizures | How is it inherited?: it is caused by spontaneous mutations and can not be carried or transferred by the parent | Symptoms: extreme happiness, small head size, fair skin and hair, poor balance, and speech impairments

3: Diagonosis: can be spotted within the first 6 to 12 months after childbirth. The doctors can usually tell by performing a karyotype analysis | Treatment: there is currently no cure although there are belts that help with child's loss of balance | Prognosis: most people with Angelman do not die but they do do remain handicapped for the remainder of their lives | Life for the child: they will not die but will be live with mental disablilites and seizures | Support Groups: ASSERT is a European organization that helps to raise money for families with Angelman. | Incidents: Only about 1 inevery 12,000 to 20,000 people are diagnososed with Angelman

4: Methemoglobinemia | 1: What is it? A blood disoder in which the body cannot recycle hemoglobin after it dies. Hemoglobin is the oxygen carrying molecule found in blood cells. | 2:How is it inherited? First way is by a mutant form of hemeglobin called hemoglobin M. that can not bind oxygen. Second way is by exposure to a certain drugs like lidocaine or beenzocaine. | 3: Symptoms 3 to 15% of methemeglobin level: gray or blueish skin. | A-normal blood a-methemoglobinemia

5: 4:Diagnosed by a blood test. | 5:Treatment Treated with a drug that's called methylene.Patients with lower level of methemoglobin can be treated with ascorbic acid thats taken daily. Though so, there are no alternative treatment. | 25 to 69%: dark chocolate colored blood, headache, mental retardation, confusion,chestpain& weakness. 70% and above: death if not treated imediately. | 25 to 69%: dark chocolate color blood, headache, mental retardation, confusion,chestpain& weakness. 70% and above: death if not treated imediately | 6/7: Pronogsis A pretty normal life, though medication is needed to be taken daily. | 8:Support group Call "lifespan" at 401-444-4800.

6: SCID | SCID (severe combinded imounodeficiency ) is a sex-linked disease that causes a child to have no immune system | Boys with SCID tend to have a short life. Most live in a germ free bubble to prevent getting sick.

7: Symptoms: -often infections -blood disorders -cold sores -weakness -weight loss -no tonsils -sepis -sunted growth | Treatments -life in a bubble -bone marrow transplants -intravenous -immunoglobins | Help?! -the SCID initiative -Primary Immunodeficiency Association -scidemial@scid.net -

8: Progeria is a genetic disaease that causes the child to grow at an exceedingly fast rate at a young age. The life of a child will be normal for the first couple months since birth. Then the symptoms will appear. | PROGERIA | This disease is an auto dominant, meaning it only takes one copy of the allele. If either parent has that gene,theres 1/2 a chance of recieving it.

9: Some of the SYMPTOMS include: growth failure during the first year of life, a shrunken face, a large head, baldness, dry, scaley, thin skin. So far, TREATMENT for this disease is still unknown. | Children who have this disease, generally have a short lifespan. On average, living for 13 years.There are rare cases where the patient can live to their early teens and some even to their thirties. | Support Groups: Progeria Research Foundation - is dedicated by a mother who wanted to know more about this disease for the benefit of her child and for future generations. | Diognosis: Blood tests are conducted, and the appearance of the child is observed.

10: Sickle cell anemia | What is it? | A serious disease where the body makes sickle shaped red blood cells. | How is inherited? | both parents passing the S gene to the child. | Pain associated with blocked blood vessels | What are the symptomes? | How is it Diagnosed? | Just a simple blood test | Basic to advanced pain killers. | How Is It Treated? | What's The Prognosis? | people usually live to be about 40 years old | everyday life? | hard because of doctor visits and pain | help? | agencies that provide it.

12: Chances: The chance of a child getting the disease depends on the age of the mother of that child. The higher the age the higher the chance. Symptoms: Cleft palate, clenched fist, small head, small lower jaw, close-set eyes, seizures, low-set ears, extra fingers or toes, etc. | Diagnosis: Abnormal placement of the heart. Amniocentisis Treatment: The treatment is based on the induvidual problems of child. Prognosis: 80% of children pass away withen 1st month. Only 5% to 10% live after 1st month | Trisomy 13

13: Living with the disease: Most children live a very short life, or have numerous surgeries. | Support Groups: Support Organization For Trisomy 18, 13, and realated disorders.(SOFT) | What is it? Trisomy 13 is a chromosomal condition associated with severe academic disability and phisical deformities in many parts of the body | How is it inherited? It's a chromosomal mutation.

14: what is neurofibromatosis ? | is a genetic disorder that affects cell growth in nerve tissue.it produces tumors of the skin, internal organs that may become cancerous. It can affect bones. ait can also cause servere pain . It may also cause learning disorders or even hearing problems. | You can still live a normal life and reach for the stars

15: the prognosis of NF1 are mild. it is also proven patients live normal and long lives ,However< NF2 can be very life threatning do to affects. | there are support groups that will provide *surgery *prayer *pain management *writings | This disease is treated by surgery,radiation, and new technology MRI is very helpful. It can reveal small tumors .

16: Xeroderma Pigmentosum | An Autosomal recessive genetic disorder in which the ability to repair damage caused by the sun light is deficient. | If parents are only carriers, their children will not show signs of it but if you have 2 XP genes it will cause you to have extreme sensitivity of UV rays, Xeroderma Pigmentosum. | People with XP must wear protective clothing to prevent skin cancer from UV rays. | Kids with XP can not attend regular schools because they can not be exposed to sunlight.

17: Symptoms: -Blisters or Freckles -Premature aging of skin, lips, eyes, mouth and tongue -Blindness resulting from eye lesions -Neurological complications -developmental disabilities -mental retardation -high frequency hearing loss, progressing to deafness | Diagnosis: Usually diagnosed around the age of 1-2, XP can be diagnosed by measuring the DNA repair factor from skin or blood samples. | Treatment: No cure, Avoiding sun exposure by wearing protective gear . | Prognosis: Many die at an early age from skin cancer, but can be prevented by remembering your protective gear. | Camp Sundown: A "night camp" for kids with XP

18: Hemophilia | Hemophilia: is an inherited disease that prevents the blood from clotting properly. Symptoms: people bleed longer, with treatment, internal bleeding How is it diagnosed: Factor assay, Detecting carries with DNA test How is it treated: people inject themselves with purified clothing factors to prevent or stop bleeding episodes What will life be like for child with it: Life is real bad for a child with hemophilia, children can have internal bleeding

19: What is the prognosis: Near normal lifestyle with treatment, but with need to avoid injury Where can i turn to for help: You can go to a doctor or specialists How is it inherited: A and B are both caused by a genetic defect present of the x chromosome.g How is it diagnosed: How long it takes for your blood to clot, whether your blood has low levels of any of the clotting factors

20: Cystic Fibrosis | Cystic Fibrosis is an autosomal recessive disease that causes mucus to build up in the lungs and digestive tract. | Fun Fact: Children with cystic fibrosis often mispronounce the disease; calling it "65 Roses"

21: Symptoms: - Chronic coughing - Digestive problems - Salty skin - Frequent pneumonia - Poor growth | Diagnosis: Patients are usually diagnosed by age two. Cystic Fibrosis can be identified through a sweat test. | Treatments: There is no cure. However, one may take antibiotics or an enzyme supplement. | Prognosis: One's life may be shortened greatly. Few live past age 30.

22: Albinism | Albinism is the lack of melanin pigment in the eyes, hair, and skin. | AKA Achromia | Inherited from recessive alleles. | Prognosis: They can have a normal life span. | 1/4 chance of inheriting aa is the one with alibinism. | As a child with albinism they could experience social problems.

23: Symptoms: Absences of coloring from the hair, eyes, and skin. Patchy, missing skin color. Crossed eyes, light sensitivity, rapid eye movement, vision problems. | Diagnoses: Chemical testing of hair, blood tests. | Treatment: Protect eyes and skin from sun. Reduce sunburn risk by avoiding sun, cover up with clothing, sunscreen with high spf, and sunglasses (UV protected) | Support groups: NOAH- National Organization for Albinism and Hypopigmentation.

24: Lesch-Nyhan Syndrome Is a rare, inherited disorder caused by a deficiency of the enzyme (HPRT). that causes neurological issues and self-mutilation. | The Symptoms are developing gout-like swelling in some joints, kindney and bladder stones delelops because of the high uric acid levels. | How is it inherited? Condtion is inherited in an X linked recessive pattern. | What will life be like for a child with it? It brings challenges to many peoples lives. Where can I turn to for help? LND NET

25: How is it diagnosed? Suggested by the child's symptoms, such as abnormal muscle movements. Parents may noticethe "orange sand" in an infant's diaper. How is it treated? No specific treatment exists for Lesch Nyhan Syndrome. The gout med. allopuinol sucessfully decrease uric acid levels but does not improve the neurological outcome. What is the prognosis? The outcome is likely to be poor, even with attenpts to treat the condition

26: Cri-du-chat ("cry of the cat") is a rare disorder that is caused by a mutation in chromosome 5. Those with this genetic disease make cat-like cries due to a deformed larynx. Cri-du-chat causes many symptoms such as: - difficulty eating - low birth weight and poor growth - severe speech problems - behavior issues (aggresiveness, hyperactiveness... etc.) - continuous drooling Some genetic tests like CVS (Chorionic Villus Sampling), can check to see if a baby (that's not born yet) will have Cri-du-chat. Even though there's no cure, genetic counseling can still help with their speech and behavior problems. | Cri-du-chat

27: People with this syndrom, during infancy, have a 10% mortality. This is because of heart problems, difficulty eating, and hypotonia. These problems can be controlled eventually, and once they are, those with this genetic disease can have a normal life span. | Children with Cri-du-chat have feeding problems, because of difficulty swallowing. The severity of the "cat-like cry" is worse in their younger ages. Children will have growth problems and also have trouble gaining weight. Since poor muscle tone is common, children with this genetic disease may not have the strength to do things the average child can. Heart problems is also a possibility. | For support, there is a support group called 5-P society.

28: Down Syndrome is caused by the presence of all or apart of an extra 21st chromosome. Kids with Down Syndrome can live into their 40s and 50s. Some children with down syndrome participate in post-secondary education. | Down Syndrome is inherited by Chromosomal Mutations which is spontaneous mutations that occurs during meiosis. Kids with Down Syndrome can reduce the risk of cancer.

29: Diagnosis: Usually made after the birth of a baby because of the baby's appearance. | Symptoms: Decreased muscle tone at birth,mental retardation slanting eyes, and an asymmetrical skull. | Treated: No cure exists for Down Syndrome. But physical therapy and speech therapy can help.

30: Maple Syrup Urine Disease | Early symptoms can be poor feeding, vomiting, lethargy, and developmental delay. | This condition can be potentially deadly; leading to siezures, comas, or death. | MSUD is caused from mutaions in BCKDHA, BCKDHB, DBT, and DLD (the genes that break down luecine, isoluecine, and valine which are found in a lot of foods w/proteins like, milk, meats, and eggs.)

31: This condition is autosomal recessive | MSUD is an inherited disorder in which the body can't properly produce amino acids. It gets its name from the sweet smell of the baby's urine.

32: TAY-SACHS | What is it? A rare and extremely severe genetic condition that affects the brain and nerves. | How is it inherited? AR | What are the symptoms? Blindness, deaf, and paralize.

33: The retina in the eye of a child with Tay-Sachs disease showing the characteristic 'cherry-red' spot. | How is it diagnosed? (tests) Tested for the Hex A deficit that causes Tay-sachs disease.

34: ADRENOLEUKODYSTROPHY (AKA) ALD | SYMPTOMS: -Loss of previously aquired neurologic abilities -Seizures -Ataxia -Addison's Disease -Degeneration of visual and auditory functions | Diagnosis: Doctors can diagnose this disease with blood tests or looking for high levels of a very long chain of fatty acids. Prognosis: Death usually occurs within 1-10 years from the start of symptoms | Treatment: Although there is no complete cure for ALD, it can be helped with Lorenzo's Oil or a bone marrow transplant. Symtomatic and supportive treatment include physical therapy, psycological support, and special education.

35: There are alot of support groups that are open to help patients in need of therapy. | ADRENOLEUKODYSTROPHY is a sex linked disease. | Life for a child with this disease can be frustrating, depressing, and also filled with anger. | This is a brain MRI of ALD

36: Marfans What is it- an inheritable condition that affects the connective tissue. How is it inherited- It is autosomal dominant so only one parent has to have it to pass it on. What are the symtoms- Weak connective tissue in the heart, eyes, skeleton, nervous systom and other organs. How is it diagnosed- a phisician may do a family medical history to see if any one else has it; or by ECG and EKG's. How is it treated- usually surgery is needed if it is bad enough, but you can also take pills. What is the prognosis- people usually live a normal life span. What will it be like for a child- the child probably wouldnt be able to be active at all and would probably be on medicine. Where can I turn for help- one of the biggest would be the National Marfan Foundation.

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