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Treacher Collins syndrome

Treacher Collins syndrome (also known as Franceschetti-Zwahlen-Klein syndrome or mandibulofacial dysostosis) is a rare genetic disorder characterized by craniofacial deformities. It is also known as Treacher Collins-Franceschetti syndrome and mandibulofacial dysostosis. Treacher Collins syndrome is found in 1 in every 50,000 births. The typical physical features include downward slanting eyes, a small lower jaw, and malformed or absent ears. more...

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Its most common name is after Dr Edward Treacher Collins (1862-1932), English surgeon and ophthalmologist, who described the essential traits of the syndrome in 1900.

The disease is caused by mutations in the TCOF1 gene (chromosome 5q32-q33.1). The protein coded by this gene is called treacle and has been hypothesised to assist in protein sorting during particular stages in embryonic development, particularly that of the structures of the head and face. The disorder is inherited in an autosomal dominant pattern.

Symptoms

The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, which result in a sunken appearance in the middle of the face, a prominent nose, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems.

People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called a coloboma. This condition is also characterized by absent, small, or unusually formed ears (pinnae), called microtia. Defects in the middle ear (which contains three small bones that transmit sound) cause hearing loss in about half of cases. People with Treacher Collins syndrome usually have normal intelligence.

Read more at Wikipedia.org


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From Discover, 1/1/97 by Josie Glausiusz

TREACHER COLLINS SYNDROME - a facial disorder characterized by deformed ears, deafness, down-slanting eyes, a narrow, flat face, and a small chin - was found to be caused by a mutation in a gene on chromosome 5, which codes for a protein named Treacle.

RETINITIS PIGMENTOSA is a progressive form of blindness that affects one in 4,000 people. One of the two most common forms of the disease was traced to a gene on the X chromosome. Researches are now developing a test for the disorder.

ANHIDROTIC ECTODERMAL DYSPLASIA leaves sufferers toothless, bald, and unable to sweat. A mutation on the X chromosome was found to be responsible. It interferes with the development of the ectoderm - the outermost cell layer in the human embryo.

ASTROTACTIN is a protein that guides developing neurons to their correct posititions in the embryonic brain. A gene for the protein was identified on chromosome 1. The find could lead to greater understanding of epilepsy and schizophrenia, which may sometimes result from errors in neuron migration.

WILLIAMS SYNDROME sufferers have relatively good language skills, but they often have problems with regard to spatial tasks - they have trouble building a model from a diagram, for instance. That specific disability was traced in 1996 to a missing gene on chromosome 7, which codes for a protein involved in brain development. People with Williams lack several other genes on the same chromosome.

BASAL CELL CARCINOMA, the most common form of skin cancer, was found to be caused by a mutation in a gene on chromosome 9 called patched. The normal version of the gene plays a role in embryonic development.

FANCONI ANEMIA, a race disorder, has been traced to a gene on chromosome 16. It's thought that mutations in the gene cause an increased susceptibility to chemicals that damage DNA. Affected children are unable to product sufficient blood cells and usually develop anemia or leukemia, typically dying by age 16.

HEMOCHROMATOSIS, the most common inherited genetic disorder among people on chromosome 6. The mutation may disrupt the intestine's ability to regulate the abrosbtion of iron, which builds up in various organs. Sufferes can develop diabetes, cirrhosis, and heart disease.

PROGRESSIVE MYOCLONUS EPILEPSY is a rare form of inherited epilepsy characterized by nerve degeneration and progressive dementis. The gene that causes it was pinpointed on chromosome 21. It's known that a mutation blocks the production of the enzyme cystatin B, but how this leads to epilepsy is still unclear.

COPYRIGHT 1997 Discover
COPYRIGHT 2004 Gale Group

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