Langer-Giedion syndrome is a very rare genetic disorder caused by a deletion of chromosomal material. It is named after the two doctors who undertook the main research into the condition in the 1960s. Diagnosis is usually made at birth or in early childhood.

The syndrome occurs when a small piece of chromosome 8’s long arm, which contains a number of genes is missing. The loss of these genes is responsible for some of the overall characteristics of Langer-Giedion syndrome. This disorder is also called trichorhinophalangeal syndrome, or LGCR (for Langer-Giedion Chromosome Region).

Symptoms

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The features associated with this condition include mild to moderate learning difficulties, short stature, unique facial features, small head and skeletal abnormalities including bony growths projecting from the surfaces of bones. These may include benign bony growths on various bones of the body or cone-shaped extensions on the growing ends of certain bones, particularly in the hands, and specific craniofacial features. Typically individuals with Langer-Giedion syndrome have fine scalp hair, ears, which may be large, or prominent, broad eyebrows, deep-set eyes, a bulbous nose, long narrow upper lip and missing teeth.

Other features associated with this condition may include loose-wrinkled skin and joint laxity or floppiness, hearing loss and delayed speech. Individuals with Langer-Giedion syndrome may show a susceptibility to infections during the first years of life, especially chest infection. Individuals may show some or all of these features and, in addition, may be differently affected by the severity of their symptoms. The outlook for children with Langer-Giedion syndrome depends greatly on the severity of the features.

Occurrence

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Most cases of Langer-Giedion syndrome occur at irregular intervals, which means that the loss of genetic material is often not present in the parent and usually other family members are not affected.

Treatment

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While no genetic syndrome can be 'cured', treatments are available for some symptoms. External fixators, for instance, have been used for limbic and facial reconstructions. Some patients with this syndrome are known to have had short life spans, but there are also healthy adult patients who require little treatment.

Congenital genetic disorders | Eponymous diseases