| 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 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. This disorder is also called trichorhinophalangeal syndrome type II, or LGCR (for Langer-Giedion Chromosome Region).[1]
Contents |
Symptoms
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.[2] 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.
Cause
Deletion 8q23.2 to q24.1.[3]
Diagnosis
The diagnosis can be made by cytogenetic testing.
Treatment
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.
Epidemiology
Image gallery
 The right foot of a person with Langer-Giedion syndrome showing the characteristic features |
 Hands of a person with Langer-Giedion syndrome showing the characteristic short fingers. |
See also
References
- ^ http://www3.interscience.wiley.com/journal/119139819/abstract
- ^ Devidayal; Marwaha RK (February 2006). "Langer-Giedion Syndrome". Indian Pediatrics 43 (2): 174–175. PMID 16528117. http://www.indianpediatrics.net/feb2006/174.pdf.
- ^ http://www3.interscience.wiley.com/journal/119139819/abstract
External links
- Trichorhinophalangeal syndrome type 2 at NIH's Office of Rare Diseases
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