Achondroplasia is a genetic form of dwarfism due to a problem with bone growth and development. Achondroplasia belongs to a class of dwarfism referred to as a skeletal dysplasia. All skeletal dysplasias are the result of bone growth. Achondroplasia is a common form of dwarfism due to a mutation on one of the first 22 “non-sex” chromosomes. This causes an individual to have a short stature with disproportionately short arms and legs, a large head, and distinctive facial features such as a prominent forehead and flattened midface.

A family shares there experience with giving birth to a child with achondroplasia.

Acid maltase deficiency is a glycogen storage disease and characterized by a buildup of glycogen in the muscles. Glycogen is the chemical substance used by muscles to store sugar and starch. Acid maltase deficiency, also called Pompe disease, is a non-sex linked disorder that is the most serious of the glycogen storage diseases. This is one of many known congenital muscular diseases.

Ian shares his experience living with Acid Maltase Deficiency, also known as Pompe Disease. Lend your support to Ian and those suffering from Pompe disease so that they can get access to a potentially life saving treatment.Show your support by visiting www.pompecanada.com

Adrenoleukodystrophy is a progressive condition that affects the adrenal glands and the growth of myelin in the brain and spinal cord. This is an x-linked genetic disorder. It results in the accumulation of long chain fatty acids in the nervous system, adrenal gland, and testes, which disrupts normal activity. There are seven recognized forms of the disease.

The neonatal form appears shortly after birth and includes seizures and delayed neurological development, with death occurring in infancy or young childhood. The cerebral form appears in mid-childhood (at 4-8 years), and the other forms appear during adolescence. One-third of affected people develop neurological symptoms, and about half develop abnormal adrenal function.

As the disease progresses, further signs of damage to the white matter of the brain appear; they include changes in muscle tone, stiffness and contracture deformities, difficulty swallowing, and comma.

A disease that can cause death after the mother passes the trait that enables the function of the brain.

Aicardi syndrome is a rare genetic disorder that causes defects of the eyes and brain. Aicardi syndrome is an x-linked dominant condition primarily found in females. Males with the disease die before birth. This is also called Agenesis of Corpus Callosum with Corioretinal Abnormality. It’s called this due to the abnormal formation of the connection between the right and left hemisphere of the brain(corpus callosum), and development of the choroids and retinal sections of the eye.

Video created by Trent Stroup and Jay Rubin. Daughter, Adelyn Stroup diagnosed with Aicardi Syndrome.

Alpha-1 Antitrypsin is caused by a deficiency in the protein alpha-1 antitrypsin. This is one of the most common inherited diseases in the Caucasion population. The most common symptom is lung disease. The development of lung disease is also affected by smoking. People with alpha-1 antitrypsin may also develop liver disease and/or liver cancer. The age of onset, rate of progression, and symptoms vary within families.

Alpha-1-antitrypsin deficiency, histopathology of Liver video.

Androgen insensitivity syndrome is an x-linked recessive disorder. Androgen results from mutations of the gene encoding the androgen receptor. The individuals affected have male chromosomes and male testicles. The external genitals have mild to complete feminization. A woman with androgen insensitivity syndrome has a female appearance and undescended testes, also called testicular feminization.

This man shares his views on living with Androgen Insitivity Syndrome also known as Klinefelter’s Syndrome or XXY.

Apert syndrome is an autosomal dominant disorder. One of the major symptoms is a premature closure of the skull bones leading to facial distortion with an unusually tall skull. Individuals with apert syndrome also suffer from syndactyly, which is the fusion of the fingers and toes. The hand appears mitten-shaped due to the finger infusion.

Families of Apert Syndrome families reunite in Mexico.

Ataxia-telangiectasia is a rare genetic neurological disorder that affects various systems in the body. Children don’t show signs of the disease until age one or two. The onset of ataxia is the beginning of progressive degeneration of the part of the brain responsible for movement, the cerebellum. This degeneration leads to a general lack of muscle control and eventually confines the individual to a wheelchair.

In the fall of 2007, endurance runner Tim Borland ran 63 consecutive marathons from the west coast to the east coast.The A-T CureTour spanned more than15-thousand miles, 29 states, 1 Canadian Province and 63 communities where A-T children and their families live. The A-T CureTour brought attention to the rare orphan disease Ataxia Telangiectasia and renewed hopes of finding a cure. This video includes highlights from the tour.

Canavan disease is a gene-linked neurological disorder in which the white matter of the brain is degenerated into spongy tissues. This disease is caused by mutations in the enzyme gene called aspartacylase. Canavan is a type of leukodystrophy. Individuals with this disease may suffer from paralysis, blindness, hearing loss, mental retardation, abnormal muscle tone, and an abnormally large head.

 Video about Canavan disease, medical research and genetic testing. Testing is available for members of the at-risk population. For more information about genetic testing and testing centers go to http://www.geneclinics.org/

Cerebral Palsy is a nonprogressive disorder of movement and posture. This is caused by abnormal development of the motor control centers of the brain. The abnormalities of muscle control are often accompanied by other neurological and physical damage.

Sacramento, California Boy undergoes Stem Cell Treatment

Cystic Fibrosis is a genetic disease that affects the lungs, digestive system, sweat glands, and male fertility. This disease affects the body’s ability to move salt and water within the cells. This defect causes the lungs and pancreas to secrete thick mucus, blocking passageways and enabling proper function.

A tribute to the people in this world with Cystic Fibrosis and those who know someone who has or had cystic fibrosis.

Deletion 22qll syndrome is a common genetic disorder caused by a deletion of chromosome material from chromosome 22(22q). The deleted material produces a variety of affects. This is characterized by congenital heart defects, palate abnormalities, immune problems, and learning disabilities.

Teralynn was born with 22q11.2 Deletion Syndrome aka VeloCardioFacial Syndrome/DiGeorge Syndrome.

Diabetes is a disease in which there is an elevated level of sugar glucose. Glucose is the body’s main source of energy for cell functions in the blood. A disorder in the production of the insulin hormone causes increased levels of glucose and other molecules. This sets off a variety of health problems due to high glucose levels on the blood vessels.

Video about an 11 year old girl with juvenile diabetes.

Down Syndrome is a genetic disorder caused by an extra copy of chromosome 21, also called trisomy 21. Individuals with this disorder suffer from impaired cognitive ability, physical growth, and facial appearance. Symptoms may also include: almond shaped eyes, shorter limbs, and poor muscle tone.

A loving mother presents her experience with her little angel, that happened to inherit this disorder.

Ectodermal dysplasia is a group of syndromes deriving from abnormalities of the ectodermal structures. The ectoderm is responsible for the development of hair, teeth, nails, and skin. Individuals with this disorders have defects in the hair, teeth, nails, and skin.

Cabaret video in aid of the Ectodermal Dysplasia Society.

Fragile X Syndrome is the most common form of inherited mental retardation. This syndrome is caused by a mutation in the FMR-1 gene on the x chromosome. Individuals with this disorder have developmental delay, variable levels of retardation, behavioral and emotional difficulties, and possible physical traits.

UC Davis M.I.N.D. Institute Summer Series on Neurodevelopmental Disorders presents Randi J. Hagerman, M.D., F.A.A.P. discussing advances in the molecular and behavioral levels and features associated with Fragile X and Autism.

A brief summary of work covered so far in the topic Inheritance and Variation.

Lakshmi Mehta M.D at Mount Sinai Medical Center discusses the roles of recessive and dominant genes.

Hemochromatosis is a genetic disorder that causes the body to increase the absorption of intestinal iron. This iron overload can eventually cause cirrhosis of the liver.

Hemochromatosis is Canada’s largest genetics disorder. This video gives an in depth look into hemochromatosis. For more information contact the Canadian Hemochromatosis Society:http://www.cdnhemochromatosis.ca/

Hemophilia is an x-linked bleeding disorder that slows the blood clotting process. The major types of this disorder are Hemophilia A and Hemophilia B. Mutations in the F8 gene trigger type A Hemophilia, and the mutations on the F9 gene causes type B Hemophilia. Individuals with this condition often experience prolonged bleeding from an injury, surgery, or having a tooth pulled. Bleeding into the joints, muscles, brain, or internal organs can cause serious complications.

This video explains how the World Federation of Hemophilia is working to improve care and treatment worldwide.

Hirchsprung’s disease is an abnormality in which certain nerve fibers are absent in segments of the bowel. This disease is caused by certain nerve cells in the large intestine that didn’t develop before birth. Without the nerves, the affected colon lacks the ability to move bowel contents. This disease can affect varying lengths of the bowel segment.

Stephen Dolgin MD Pediatric Surgeon at Schneider Children’s Hospital discusses Hirchsprung’s Disease surgery

Krabbe disease is a rare genetic disorder that degenerates the central and peripheral nervous systems. Many individuals affected begin showing symptoms such as; limb stiffness, seizures, vomiting, and the slowing of mental and motor development before six months old. Due to this progressive loss of mental and motor function, children usually die before age 18 months. Less severe variations exist with onset in later childhood or adulthood.

This video explains how the Hunter’s Hope Foundation for Krabbe disease was discovered.

Leukodystrophy describes a group of rare genetic disorders that affect the central nervous system. These disorders are progressive in the disruption of the myelin sheath insulating nerve cells. Depending on the type of Leukodystrophy this disorder can be recessive, dominant, or x-linked. Currently there are 34 known variations of this rare genetic disorder. Specific types include: Krabbe Disease, Adrenleukodystrophy, Canavan disease, metachromatic leukodystrophy, and more.

This video was created to show people what this disease looks like, and the research being done to try to treat and cure it.

For more information about Leukodystrophy, visit www.ulf.org

Long QT Syndrome can be an acquired or rare genetic disorder. Gene mutations account for 75 percent of Long Qt Syndrome. The most common genetic variations of this syndrome are Romano-Ward Syndrome and Jervell and Lange-Nielsen Syndrome. Individuals with Romano-Ward have only one genetic variant from both parents. Individuals with Jervell and Lange-Nielsen have one genetic variant from each parent. This disorder causes cardiac arrhythmias and abnormal electric activity in the heart; which can lead to cardiac arrest and sudden death.

“Broken Hearts, Electric Shocks” is an intimate telling of one family’s struggle to cope with a rare heart condition known as Long QT Syndrome.

Marfan syndrome is an inherited disorder of the connective tissue that causes abnormalities of the patient’s eyes, cardiovascular system, and musculoskeletal system. Marfan syndrome is caused by a gene mutation for fibrillin on chromosome 15.This disorder can be inherited by a parent or grandparent. Fibrillin is the main component of microfibrils that allow tissues to stretch repeatedly without weakening. Due to abnormal fibrillin, the connective tissues are looser than usual, which damages the support structures of the entire body.Marfan syndrome affects people in different ways. Some people have only mild symptoms, while others are more severely affected. Symptoms progress with age. Abnormalities of the body systems affected are: Skeletal: A person with Marfan syndrome often has a long, narrow face, and the roof of the mouth may be arched, causing the teeth to be crowded. Other skeletal abnormalities include a breastbone that is either protruding or indented,scoliosis, and flat feet. Eyes: More than half of all people with Marfan syndrome experience dislocation of one or both lenses of the eye.Cardiovascular system: Most people with Marfan syndrome have abnormalities associated with the heart and blood vessels.The aorta may be weakened and stretch, a process called aortic dilatation. Aortic dilatation increases the risk that the aorta will tear or rupture, causing serious heart problems or sometimes sudden death.

This is a video interview about this young man and his family’s experience with him being diagnosed with Marfan Syndrome.

Muscular dystrophy is an x-linked genetic disorder characterized by progressive weakness and wasting of muscles. The most common and severe type is Duchenne’s muscular dystrophy (DMD). Duchenne muscular dystrophy leads to the production of an abnormal protein called dystrophin.

Parent Project Muscular Dystrophy is leading the Duchenne Muscular Dystrophy community through its commitment to research, education, advocacy and compassion.