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.

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