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Disability Glossary

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Lamellar ichthyosis

Lamellar ichthyosis (LI) is an autosomal recessive disorder that is apparent at birth and is present throughout life. The newborn is born encased in a collodion membrane that sheds within 10-14 days. The shedding of the membrane reveals generalized scaling with variable redness of the skin. The scaling may be fine or platelike, resembling fish skin. Although the disorder is not life threatening, it is quite disfiguring and causes considerable psychological stress to affected patients.

Larsen syndrome

Larsen syndrome (LS), is a rare usually autosomal dominant congenital disorder that occurs in about every 1 in 100,000 people. Its symptoms include hypermobility, congenital dislocations, brachycephaly and cleft palate. It may rarely be recessive.

The condition was first described in a 1950 journal report by L. J. Larsen, et al.

It is caused by a resistance to Growth hormone (GH) secondary to a defect in GH receptors. Investigations reveal high levels of GH and low levels of Insulin like growth factor-1 (IGF-1).

Learning Disability

People with a learning disability generally have average or above average intelligence and the ability to learn, despite having difficulties in processing information. Learning disability is specific to the individual and can affect the way a person takes in, remembers, understands, and expresses information. People with learning disabilities can achieve more when individualised self-management skills and strategies are developed and relevant adjustments are provided.The incidence of people with a learning disability in Australia, as in other Western countries is approximately 10 to 12 per cent of the population, with 4 per cent being severely affected.

Lesch-Nyhan syndrome

Lesch-Nyhan syndrome is an inheritable disorder that affects how the body builds and breaks down purines. Purines are a normal part of human tissue and help make up the body's genetic blueprint. They are also found in many different foods. Causes, incidence, and risk factors

Lesch-Nyhan syndrome is inherited as an X-linked trait. It mostly occurs in boys. Persons with this syndrome are missing or are severely lacking an enzyme called hypoxanthine guanine phosphoribosyltransferase 1 (HGP). The body needs this enzyme to recycle purines. Without it, abnormally high levels of uric acid build up in the body.

The condition affects about 1 in 380,000 people. Symptoms

The excess uric acid levels cause children to develop gout-like swelling in some of their joints. In some cases, kidney and bladder stones develop because of the high uric acid levels.

Males with Lesch-Nyhan have delayed motor development followed by bizarre, sinuous movements and increased deep tendon reflexes. A striking feature of Lesch-Nyhan syndrome is self-destructive behavior characterized by chewing off fingertips and lips, if not restrained. It is unknown how the enzyme deficiency causes these problems.