| Langer-Giedion syndrome | |
|---|---|
| Classification and external resources | |
A person showing the typical features of Langer-Giedion syndrome |
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| OMIM | 150230 |
| DiseasesDB | 31949 |
| MeSH | D015826 |
Langer-Giedion syndrome (LGS), also called trichorhinophalangeal syndrome type II (TRPS2) or LGCR (for "Langer-Giedion Chromosome Region"),[1][2] is a very uncommon autosomal dominant 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.
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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.[3] Typically individuals with Langer-Giedion syndrome have fine scalp hair, ears that may be large or prominent, broad eyebrows, deep-set eyes, a bulbous nose, long narrow upper lip, and missing teeth.
Deletion 8q23.2 to q24.1.[2]
It involves a loss of TRPS1 and EXT1.
The diagnosis can be made by cytogenetic testing.
While no genetic syndrome is capable of being cured, treatments are available for some symptoms. External fixators have been used for limbic and facial reconstructions.