Langer-Giedion syndrome
| Langer–Giedion syndrome | |
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| Synonyms | Deletion 8q24.1, monosomy 8q24.1, trichorhinophalangeal syndrome type II (TRPS2), Langer-Giedion chromosome region (LGCR) |
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| A person showing the typical features of Langer-Giedion syndrome | |
| Specialty | medical genetics |
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| External resources |
Langer–Giedion syndrome (LGS) 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 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.
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.
Deletion 8q23.2 to q24.1.
It involves a loss of TRPS1 and EXT1.
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.
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 hybridization 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.
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