Langer–Giedion syndrome

Langer–Giedion Syndrome is a rare genetic disorder characterized by distinctive facial features, intellectual disability, and multiple bone abnormalities. It is also known as Trichorhinophalangeal Syndrome type II (TRPS II).

Overview

Langer–Giedion Syndrome is an autosomal dominant disorder, which means that only one copy of the altered gene is necessary for the disorder to occur. However, most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Symptoms

The symptoms of Langer–Giedion Syndrome can vary greatly from person to person. However, common symptoms include distinctive facial features such as a bulbous nose, a long flat area between the nose and the upper lip (philtrum), and a thin upper lip. Individuals with this syndrome may also have intellectual disability and multiple bone abnormalities, including cone-shaped epiphyses, the rounded ends of long bones.

Genetics

Langer–Giedion Syndrome is caused by mutations in the TRPS1 and EXT1 genes. These genes provide instructions for producing proteins that are involved in the development of bones and other tissues.

Diagnosis

Diagnosis of Langer–Giedion Syndrome is typically based on the presence of characteristic signs and symptoms. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for Langer–Giedion Syndrome. Treatment is symptomatic and supportive, and may include physical therapy, special education, and surgery to correct bone abnormalities.

See Also

• Genetic disorder
• Autosomal dominant
• TRPS1
• EXT1

NIH genetic and rare disease info

• NIH info on Langer–Giedion syndrome

Langer–Giedion syndrome is a rare disease.

Langer–Giedion syndrome Resources
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