Langer-Giedion syndrome 195631 223285365 2008-07-03T11:58:28Z Lightbot 7178666 Units/dates/other {{Infobox_Disease | Name = Langer-Giedion syndrome | Image = | 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 [[genetic deletion|deletion]] of [[chromosome|chromosomal]] material. It is named after the two [[Medical doctor|doctor]]s who undertook the main research into the condition in the 1960s. [[Diagnosis]] is usually made at [[Child birth|birth]] or in early childhood. The syndrome occurs when a small piece of [[Chromosome#Human_chromosome|chromosome 8]]’s long arm, which contains a number of [[gene]]s 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'''). ==Symptoms== The features associated with this condition include mild to moderate learning difficulties, short stature, unique facial features, small [[skull|head]] and [[Human skeleton|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 q24.1 Detected by DNA analysis [[Category:Genetic disorders]] {{Genetic-disorder-stub}}