Langer–Giedion syndrome
| Langer-Giedion syndrome | |
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| File:Langer-Giedion syndrome.JPG
A person showing the typical features of Langer-Giedion syndrome
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| Classification and external resources | |
| Specialty | Lua error in Module:Wikidata at line 446: attempt to index field 'wikibase' (a nil value). |
| OMIM | 150230 |
| DiseasesDB | 31949 |
| Patient UK | Langer–Giedion syndrome |
| 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.
Contents
Genetics
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.
The missing portion of the chromosome is 8q23-q24. This region includes the genes TRPS1 and EXT1.
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.[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.
Cause
Deletion 8q23.2 to q24.1.[2]
It involves a loss of TRPS1 and EXT1.
Diagnosis
Diagnosis is based on clinical findings and can be confirmed by cytogenetic testing, when the deletion is in an average of 5 Mb (millions of base pairs). Nowadays is a common practice to run an aCHG (array Chromosome Hibridization Genome) study on peripheral blood of the patient, in order to limit the extent of the loss of the genomic area, and the deleted genes.
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
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Image gallery
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Langer-Giedion syndromeFeet.JPG
The right foot of a person with Langer–Giedion syndrome showing the characteristic features
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Langer-Giedion syndromeHands1.JPG
Hands of a person with Langer–Giedion syndrome showing the characteristic short fingers.
See also
References
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 150230
- ↑ 2.0 2.1 Lua error in package.lua at line 80: module 'strict' not found.
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- ↑ http://www.omim.org/entry/150230
External links
- Trichorhinophalangeal syndrome type 2 at NIH's Office of Rare Diseases
