|Classification and external resources|
A person showing the typical features of Langer-Giedion syndrome
Langer-Giedion Syndrome (LGS), also called trichorhinophalangeal syndrome type II (TRPS2) or LGCR (for "Langer-Giedion Chromosome Region"), 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.
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. 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.
Diagnosis is based on clinical findings and can be confirmed by cytogenetic testing, when the deletion is in a average of 5 Mb (millions of base pairs). Nowadays is a common practice to run a 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.
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.
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- Online 'Mendelian Inheritance in Man' (OMIM) 150230
- McBrien, J.; Crolla, J. A.; Huang, S.; Kelleher, J.; Gleeson, J.; Lynch, S. A. (June 2008). "Further case of microdeletion of 8q24 with phenotype overlapping Langer–Giedion withoutTRPS1 deletion". American Journal of Medical Genetics Part A 146A (12): 1587–1592. doi:10.1002/ajmg.a.32347. PMID 18478595.
- Devidayal; Marwaha RK (February 2006). "Langer-Giedion Syndrome". Indian Pediatrics 43 (2): 174–175. PMID 16528117.