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aliyah and rose

-congenital disorder caused by an extra chromosome  on the chromosome 21 pair, giving the person a total of 47 chromosomes rather than the normal 46

-causes developmental and intellectual disabilities

-occurs in about 1 in every 700–1,000 live births

-shorter life expectancy (up to 55 years)

-no drug designed to treat syndrome

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Claire
~ Genetic disorder that affects the body’s connective tissue
~also plays an important role in helping the body grow and develop properly.
~ Rare

- Fewer than 200,000 US cases per year
People may experience:

Pain areas: in the back

Heart: mitral valve prolapse or murmur

Mouth: abnormally raised roof of the mouth or crowded teeth

Visual: blurred vision or nearsightedness

Chest: bulging chest or sunken chest

Also common: abnormally long fingers, disproportionately long arms and legs, double jointed, fatigue, flat feet, scoliosis, small pupils, stretch marks, tall and slender build, or collapsed lung

Treatment varies

Treatment includes medications to keep blood pressure low, eyeglasses or contact lenses, and surgery.
Devices

Back brace

A device used to support and stabilize the back. In some cases may be used to correct an abnormal curvature of the spine.

Glasses

A frame worn on the nose that holds a set of lenses to correct vision or protect the eyes.

Contact lenses

A lens placed directly on the eye to correct or assist with vision.

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What is Marfan Syndrome? | The Marfan Foundation

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Marfan syndrome is a genetic disorder that affects the body's connective tissue. Connective tissue holds all the body's cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly.

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-dominant
-1 in 25000 in the US
-a gene that affects bone growth is abnormal
-short arms and legs
-large head
-no cure, but treatment can help
-can last for years or be life long
-normally born to parents of average height
-most common form of dwarfism
-can affect all ethnic groups
-single gene disorder on chromosome 4
-normal life expectancy
-hunched back
-misaligned teeth
-pain in the back
-snoring
-difficulty bending elbows

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Achondroplasia is a genetic disorder affecting bone development that results in short-limb dwarfism.

Achondroplasia is the most common form of short-limb dwarfism, a disorder in which bone tissue does not develop properly, especially the long bones of the arms and legs.

Affects about 1 in 25,000 individuals of all ethnic groups.

Genetics

Achondroplasia is a single gene disorder caused by mutations in the FGFR3 gene on chromosome 4.

Two different mutations in the FGFR3 gene cause more than 99 per cent of cases of achondroplasia.

It is a dominant genetic disease so only one copy of the FGFR3 gene needs to be mutated for symptoms to develop.

Achondroplasia can be inherited from a parent with the disease. However, most cases of achondroplasia are the result of a new mutation in the FGFR3 gene, over 80 per cent of people with achondroplasia have parents who are unaffected.

Biology

The FGFR3 gene encodes the instructions for making a protein called fibroblast growth factor receptor 3 (FGFR3).

Fibroblasts are cells that make the collagen and other structural materials in our tissues and bones. They also play an important role in wound healing.

A growth factor is a protein that stimulates cell growth.

A receptor is a molecule on the surface of cells that binds with other molecules outside of the cell. This enables the cell to respond to external stimuli such as growth factors.

The FGFR3 protein spans the cell membrane so that one end is inside the cell and the other is outside. This allows the protein to interact with growth factors outside the cell and receive signals for growth and development.

FGFR3 protein in bone cells helps control bone growth by limiting a process called ossification, which controls the formation of bone from cartilage.

The bones of embryos are made largely of cartilage, so they are soft. Ossification uses calcium to create hard, strong bone, as the child grows.

When growth factors bind to the FGFR3 protein it is activated (switched on) and FGFR3 is able to regulate the process of ossification.

Mutations in the FGFR3 gene lead to a change in the FGFR3 protein, specifically, the amino acid glycine is replaced with the amino acid arginine.

This results in the FGFR3 protein being absent or damaged so that it cannot interact with external growth factors and therefore cannot control ossification.

This results in problems during bone development where cartilage fails to turn into bone.

Symptoms

Due to poor bone development, the bones are shortened, particularly in the thigh and upper arms, a condition known as rhizomelia.

The thigh and upper arms are more affected because they have longer bones and larger growth plates (regions of the bones where growth occurs).

The lower legs and forearms are affected to a lesser degree because their growth plates are smaller.

The hands and feet are also short with unusual separation between the third and fourth digits.

Affected individuals reach a maximum height of 120 cm (four feet).

The torso usually develops to its proper size but the head may be larger than normal with a prominent forehead and flat nose.

Affected children have delayed development and often take longer to learn to sit, crawl and walk than their unaffected peers. They may also develop a curved spine and bowed legs.

Adults can suffer from back and leg pain. Abnormal development of the head may result in hearing loss and infections.

In the worst cases, the abnormal structure of the skull and vertebrae can cause compression of the spinal cord, resulting in paralysis and breathing difficulties.

Diagnosis

Achondroplasia is generally diagnosed by bone measurement during physical examination or after X-ray.

Prenatal diagnosis is recommended if one or both of the parents are already affected.

In the majority of cases, achondroplasia occurs spontaneously through mutations in the sperm or egg.

Treatment

There is no cure for achondroplasia.

Growth hormones can help people with achondroplasia to achieve moderate growth in some children.

Surgery is a treatment option in some cases to increase leg length by up to 30 cm, prevent spinal compression, or correct bowed legs.

In some people with achondroplasia it may be necessary to drain fluid from the head to:

relieve pressure on the brain

test for hydrocephalus, a condition where spinal fluid builds up inside the skull.

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Achondroplasia is a genetic disorder affecting bone development that results in short-limb dwarfism. Achondroplasia is the most common form of short-limb dwarfism, a disorder in which bone tissue does not develop properly, especially the long bones of the arms and legs. Affects about 1 in 25,000 individuals of all ethnic groups.

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Savannah Alicerose
a rare genetic metabolic disorder that affects an individual's ability to metabolize the sugar Galactose properly.
Symptoms of galactosemia are:

Convulsions.

Irritability.

Lethargy.

Poor feeding -- baby refuses to eat formula containing milk.

Poor weight gain.

Yellow skin and whites of the eyes (jaundice)

Vomiting.

Excess galactose in the blood affects many parts of the body. Some of the organs that may be affected include the brain, eyes, liver and kidneys. Infants with galactosemia usually have diarrhea and vomiting within a few days of drinking milk or formula containing lactose.
(The allele for normal digestion (G) is dominant; the allele for galactosemia (g) is recessive. )

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Omari & Jordan
~ Inability to clot blood or produce coagulate

~Hemophilia A, also called factor VIII (FVIII) deficiency or classic hemophilia, is a genetic disorder caused by missing or defective factor VIII.

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syd. laiba. josh
-Recessive
-One must inherit two copies of the faulty allele to have the disease.
-ratio: 1 in 4 if both parents are carriers
-1 in 2 will be a carrier but no symptoms
-no cure/treatment
-cause: defect mutation
-effect: build up of mucus in the mungs, pancreas, and other organs
-will lead to clogged airways, more infection, lung damage, respiratory failure
-result- chronic death

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brandon t tomas and brandon o rats
-involuntary movements
-affects brain
-genetic disorder (not contagious)
-symptoms vary
-weight loss
-affects old people more than young, however symptoms progress more quickly in teens and kids
-affects one person in every 10,000, or around 30,000 people in the United States
- inherited disorder that causes degeneration of brain cells, called neurons, in motor control regions of the brain, as well as other areas
-its spelled huntington's disease irl
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Dylan, Haroon, Ethan
Shihotty

1/250
Caused by lack of HexA enzyme
Offspring recieve it if both parents are carrying the tay lachs gene
Affects the brain and nervous system
NO CURE
Autosomal recessive genetic disorder
Defective gene on 15th chromosome, causes body to not make a protein, hexosaminidase or HexA enzyme.

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Created using PowToon -- Free sign up at http://www.powtoon.com/youtube/ -- Create animated videos and animated presentations for free. PowToon is a free tool that allows you to develop cool animated clips and animated presentations for your website, office meeting, sales pitch, nonprofit fundraiser, product launch, video resume, or anything else you could use an animated explainer video.

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Evan and Albert
Rare Skin disorder in which the skin doesn't produce enough of the pigment melanin. People who have it can't be exposed to lots of sunlight and they have a high risk of skin cancer. This can be caused by several different incorrect chromosomes. It is autosomal recessive. Another rare form of albinism is ocular albinism, which primarily affects the eyes. There is no cure.