Langer-Giedion syndrome

Langer-Giedion syndrome

Infobox_Disease
Name = Langer-Giedion syndrome


Caption =
DiseasesDB = 31949
ICD10 =
ICD9 =
ICDO =
OMIM = 150230
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID = D015826

Langer-Giedion syndrome is a very rare 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, or LGCR (for Langer-Giedion Chromosome Region).

ymptoms

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, which may be large, or prominent, broad eyebrows,deep-set eyes, a bulbous nose, long narrow upper lip and missing teeth.

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.

Cytogenetics

Deletion 8q23.2 to q24.1Detected by DNA analysis

External Links

*RareDiseases|7801|Trichorhinophalangeal syndrome type 2


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