Posts Tagged ‘Cystic fibrosis’

Cystic Fibrosis is one of the most common genetic disorders in the United States.  It affects primarily Caucasians of Northern European descent.  An estimated 30,000 children are affected and 1 out of 31 Americans are symptom-free carriers. Read the rest of this entry »

What do we know about heredity and cystic fibrosis?

Cystic fibrosis (CF) is the most common, fatal genetic disease in the United States. About 30,000 people in the United States have the disease. CF causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas, which stops digestive enzymes from reaching the intestine where they are required in order to digest food. Read the rest of this entry »

What is cystic fibrosis?

Cystic fibrosis is a genetic disorder that affects the respiratory and digestive systems.

People with cystic fibrosis inherit a defective gene on chromosome 7 called CFTR (cystic fibrosis transmembrane conductance regulator). The protein produced by this gene normally helps salt (sodium chloride) move in and out of cells. If the protein doesn’t work correctly, that movement is blocked and an abnormally thick sticky mucous is produced on the outside of the cell. The cells most seriously affected by this are the lung cells. This mucous clogs the airways in the lungs, and increases the risk of infection by bacteria. Read the rest of this entry »

Cystic Fibrosis is a genetic disease caused by a recessive gene inherited by the child that must be received from both parents. If both parents are carriers there is only a 25% chance that the child will have cystic fibrosis, a 50% chance that the child will be a carrier (will carry the gene but not have the disease) and a 25% chance that the child will be completely unaffected – they will not be a carrier or suffer from the disease. Read the rest of this entry »

What is Pendred syndrome?

Pendred syndrome is a genetic disorder that causes early hearing loss in children. It also can affect the thyroid gland and sometimes may affect a person’s balance. The syndrome is named after Vaughan Pendred, the physician who first described individuals with the disorder. Read the rest of this entry »

What is it?

ALD is one of a group of inherited disorders called leukodystrophies in which the fatty covering of nerve fibres, the myelin sheath, is progressively damaged because of a faulty gene. Without the myelin sheath, the nerves don’t work as they should. Read the rest of this entry »

EDWARD ALFRED COCKAYNE (1880-1956), after whom this disease is named, was a London physician who concentrated particularly on hereditary diseases of children. Cockayne syndrome is a rare inherited disorder in which people are sensitive to sunlight, have short stature and have the appearance of premature aging. In the classical form of Cockayne syndrome (Type I), the symptoms are progressive and typically become apparent after the age of one year. An early onset or congenital form of Cockayne syndrome (Type II) is apparent at birth. Interestingly, unlike other DNA repair diseases, Cockayne syndrome is not linked to cancer. Read the rest of this entry »

What is Stickler’s syndrome?
People who have Stickler’s syndrome often have faces that look different from most people.  They have myopia.  They are called nearsighted.  You can read about myopia on this website.

Sometimes people who have Stickler’s syndrome get cataracts.  You can read about cataracts on this website, too. Read the rest of this entry »

What is Lesch-Nyhan syndrome?

Lesch-Nyhan syndrome is a condition characterised by the overproduction of uric acid, a nitrogen-containing compound found in urine. Problems with the nervous system and behavioural disturbances are characteristic of this disorder. The overproduction of uric acid can cause gouty arthritis (arthritis caused by uric acid in the joints), as well as kidney and bladder stones. Abnormal involuntary muscle movements such as flexing, jerking, flinging, and flailing are often displayed. Self-injury through biting and head banging is the most common behavioural problem in Lesch-Nyhan patients. Read the rest of this entry »

Definition of Cat cry syndrome

Cat cry syndrome: A disorder caused by the loss of part of the short (p) arm from chromosome 5. Also called the cri du chat (or cri-du-chat) syndrome.

The cat cry syndrome is one of the most common human deletion syndromes with an incidence varying between 1 in 20,000 to 1 in 50,000 births. The frequency of the syndrome among profoundly retarded patients (with an IQ less than 20) is approximately 1 in 100. Read the rest of this entry »