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Amyloidosis is a disease in which Amyloid proteins are deposited and build up in vital organs.

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Usher Syndrome is a rare genetic disorder that affects both hearing and vision. It can cause deafness and or hearing loss. It can also cause vision loss and or blindness. It can also cause balance issues making it hard to walk. There are three different types of Usher Syndrome about 4 t 17 per 100,000 babies. Most little children and babies have Usher Syndrome.

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Down syndrome is the most common chromosome-related genetic condition in the US. It occurs when someone is born with an extra chromosome. There are 3 types of down syndrome. People with down syndrome typically develop mentally and physically slower. People with this condition can usually be recognized by a few defining physical structures.

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Hutchinson-Gilford Progeria Syndrome (HGPS) - Brody

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Hutchinson-Gilford Progeria Syndrome (HGPS) - Brody

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More than 130 cases reported in scientific literature globally since 1886. This genetic condition means that there is a rapid dramatic appearance of aging, beginning in childhood. The characteristic facial appearance includes prominent eyes, a thin beaky nose, thin lips, a small chin, and protruding ears. HGPS is an extremely rare genetic disorder in which the symptoms resemble aspects of aging at a very early age. The condition affects one in eight million live births and those born with HGPS typically live to their mid-teens the too early twenties. There is currently no known cure.

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A genetic disorder is when a mutation affects your genes or when you have the wrong amount of genetic genes. you inherit your gene mutation from one of both parents. ALzheimer's is a brain disordered that cant be stopped or reversed. It effects memory.

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Hemophilia is an inherited bleeding disorder in which the blood won't clot properly. the severity of hemophilia is depending on the number of factors in the blood. the lower the amount in the factor is more likely you can occur to have health problems.

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Fragile X syndrome is caused by inherited intellectual disabilities like autism. This syndrome causes behavioral, physical, intellectual, and mental health symptoms. This syndrome affects males more than women. There is no cure but, medication and therapy can help the syndrome. - McKayla O'Donnell

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Adrenoleukodystrophy is a rare genetic disorder that damages a part of the brain called the membrane also known as the myelin sheath. This covers the nerve cells located in the brain and the spinal cord. Adrenoleukodystrophy is more common in males because they inherit the disease through and X-Linked pattern. The people who inherit this disease only live around ten years after being diagnosed. The symptoms of Adrenoleukodystrophy are pain, numbness, and tingling in legs.

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Cancer is cells in your body seperate and multiply at a faster rate. These cells grow all together to make a lump, or a tumor. There are 4 stages , and 5 types of cancer.

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Diabetes is when your body can't process sugar and turn it into energy. If your diabetes is not controlled, it can lead to serious consequences down the road. If you have Diabetes, your pancreas doesn't make any or enough insulin, or your pancreas makes insulin and your body cannot use it properly.

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People with Angelman Syndrome live normal lives but need help throughout their lives. They experience seizures, trouble with speaking, balance, and intellectual ability. Normally people with this have really caring, and happy personalities along with laughing and smiling often.

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Arthritis is a multifactorial genetic disorder, meaning the environment has an effect on the disorder. It is a disease that affects your joints, causing inflammation and deterioration in your knees, feet, hands, hips, and lower back. There are six different types:
-Osteoarthritis
-Ankylosing spondylitis
-Juvenile arthritis
-Gout
-Psoriatic arthritis
and:
-Rheumatoid Arthritis

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Fibrodysplasia ossificans progressive (FOP), colloquially known as Stoneman Syndrome, slowly turns connective tissue such as tendons, muscles and ligaments into bone.The progression of the disorders starts from the neck to shoulders, and gradually proceeds to lower parts of the body and finally to the legs. Body movements will be restricted progressively because the joints get affected with the disorder. The patient finds it difficult to open mouth, which in turn causes trouble while eating and speaking.A second skeleton grows over the first, in a process known as heterotopic ossification (HO) – this is permanent, and surgical efforts to remove bone growth can trigger immense bone growth due to the invasiveness of the procedure. Individuals with this syndrome can lose their mobility after a minor fall or a small accident, as bone growth is stimulated.

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Albinism is a genetic disorder that leads to someone having white or very light eyes,skin, or hair. It is caused by a minimizing amount of melanin in their body. Melanin is responsible for giving the skin,eyes, and hair, color. Since melanin is also in charge of the development of optic nerves, therefore, people with albinism often have vision problems but other than that they are just like any human being.

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Turner Syndrome is a genetic disorders that mostly affects girls and women. People with Turner Syndrome are born with it. Turner Syndrome is when a female is born without one of her X chromosomes and a male born without his X chromosomes and only has his Y. - Leah Wells

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Albinism is a genetic disorder that reduces the amount of melanin in the skin, hair, and eyes. Albinism can occur in all racial and ethnic groups throughout the world. 18,000-20,000 people in the U.S have some form or type of the disorder.

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Albinism is a condition in which someone has either no melanin, or very little melanin in their skin, hair, and/or eyes. The trait is passed down from both of the parents who may or may not be affected with it. People with albinism are usually born with pinkish white skin and white hair. Their eye color varies from light grey, to blue, and hazel. They usually have bad vision and it is important for them to protect their skin and eyes from the sun. Albinism is usually diagnosed at birth.

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Down syndrome is a genetic disorder where someone is born with extra chromosomes which affect the way that their brain and body develop. People with down syndrome normally have distinctive body and or facial features and they are at higher risk for some medical conditions. -Madison Law

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albinism is a genetic disorder that happens when a person has less melanin than usual in their body. It makes their skin, hair, and eyes lighter in color. it also can cause vision problems

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Overview

What are genetic disorders?

Genetic disorders occur when a mutation (a harmful change to a gene, also known as a pathogenic variant) affects your genes or when you have the wrong amount of genetic material. Genes are made of DNA (deoxyribonucleic acid), which contain instructions for cell functioning and the characteristics that make you unique.

You receive half your genes from each biological parent and may inherit a gene mutation from one parent or both. Sometimes genes change due to issues within the DNA (mutations). This can raise your risk of having a genetic disorder. Some cause symptoms at birth, while others develop over time.

Genetic disorders can be:

Chromosomal: This type affects the structures that hold your genes/DNA within each cell (chromosomes). With these conditions, people are missing or have duplicated chromosome material.

Complex (multifactorial): These disorders stem from a combination of gene mutations and other factors. They include chemical exposure, diet, certain medications and tobacco or alcohol use.

Single-gene (monogenic): This group of conditions occurs from a single gene mutation.

What are common genetic disorders?

There are many types. They include:
Chromosomal disorders Multifactorial disorders Monogenic disorders
Are there other types of genetic disorders?

Genetic disorders may also cause rare diseases. This group of conditions affects fewer than 200,000 people in the U.S. According to experts, there may be as many as 7,000 of these diseases.

Rare genetic disorders include:

Symptoms and Causes

What are the causes of genetic disorders?

To understand genetic disorder causes, it's helpful to learn more about how your genes and DNA work. Most of the DNA in your genes instructs the body to make proteins. These proteins start complex cell interactions that help you stay healthy.

When a mutation occurs, it affects the genes' protein-making instructions. There could be missing proteins. Or the ones you have do not function properly. Environmental factors (also called mutagens) that could lead to a genetic mutation include:

Chemical exposure.

Radiation exposure.

Smoking.

UV exposure from the sun.

What are the symptoms of genetic disorders?

Symptoms vary depending on the type of disorder, organs affected and how severe it is. You may experience:

Behavioral changes or disturbances.

Breathing problems.

Cognitive deficits, when the brain can't process information as it should.

Developmental delays that include challenges with speech or social skills.

Eating and digestive issues, such as difficulty swallowing or an inability to process nutrients.

Limb or facial anomalies, which include missing fingers or a cleft lip and palate.

Movement disorders due to muscle stiffness or weakness.

Neurological issues such as seizures or stroke.

Poor growth or short stature.

Vision or hearing loss.

Diagnosis and Tests

How are genetic disorders identified?

If you have a family history of a genetic disorder, you may wish to consider genetic counseling to see if genetic testing is appropriate for you. Lab tests can typically show whether you have gene mutations responsible for that condition. In many cases, carrying the mutation does not always mean you'll end up with it. Genetic counselors can explain your risk and if there are steps you can take to protect your health.

If there's a family history, DNA testing for genetic disorders can be an important part of starting a family. Options include:

Carrier testing: This blood test shows whether you or your partner carry a mutation linked to genetic disorders. This is recommended for everyone considering pregnancy, even if there is no family history.

Prenatal screening: This testing usually involves blood testing from a pregnant woman that tells a person how likely it is that an unborn child could have a common chromosome condition.

Prenatal diagnostic testing: You can find out whether your unborn child faces a higher risk for certain genetic disorders. Prenatal testing uses a sample of fluid from the womb (amniocentesis).

Newborn screening: This test uses a sample of your newborn baby's blood and is performed on all babies born in Ohio. Detecting genetic disorders early in life can help your child receive timely care if needed.

Management and Treatment

What is treatment for genetic disorders like?

Most genetic disorders do not have a cure. Some have treatments that may slow disease progression or lessen their impact on your life. The type of treatment that's right for you depends on the type and severity of the disease. With others, we may not have treatment but we can provide medical surveillance to try to catch complications early.

You may need:

Medications to manage symptoms or chemotherapy to slow abnormal cell growth.

Nutrition counseling or dietary supplements to help you get the nutrients your body needs.

Physical, occupational or speech therapy to maximize your abilities.

Blood transfusion to restore levels of healthy blood cells.

Surgery to repair abnormal structures or treat complications.

Specialized treatments, such as radiation therapy for cancer.

Organ transplant, which is a procedure to replace a nonfunctioning organ with one from a healthy donor.

Prevention

How can I prevent a genetic disorder?

There is often little you can do to prevent a genetic disorder. But genetic counseling and testing can help you learn more about your risk. It can also let you know the likelihood of passing some disorders on to your children.

Outlook / Prognosis

What is the outlook for people with genetic disorders?

Some conditions, including certain rare and congenital diseases, have a grim prognosis. Children born with anencephaly typically survive only a few days. Other conditions, like an isolated cleft lip, do not affect lifespan. But you may need regular, specialized care to stay comfortable.

Living With

What do I need to know about living with a genetic disorder?

When you are living with a genetic disorder, you may have frequent medical needs. It's important to see a healthcare provider specializing in the condition. They are more likely to know which treatments are best for your needs.

You may also benefit from the support of others. Genetic disorders often have local or national support groups. These organizations can help you access resources that make life a little easier. They may also host events where you can meet other families going through similar challenges.
A note from Cleveland Clinic
Genetic disorders occur when a mutation affects your genes or chromosomes. Some disorders cause symptoms at birth, while others develop over time. Genetic testing can help you learn more about the likelihood of experiencing a genetic disorder. If you or a loved one have a genetic disorder, it's important to seek care from an experienced specialist. You may be able to get additional information and help from support groups.

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Genetic Disorders: What Are They, Types, Symptoms & Causes

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Genetic disorders occur when a mutation (a harmful change to a gene, also known as a pathogenic variant) affects your genes or when you have the wrong amount of genetic material. Genes are made of DNA (deoxyribonucleic acid), which contain instructions for cell functioning and the characteristics that make you unique.