Definition:
Langer-Giedion syndrome is a very rare genetic disorder that occurs when a chrosomal material is deleted. This syndrome is also known as trichorhinophalangeal syndrome or LGCR (for Langer-Giedion Chromosome Region). This medical condition is named after the two doctors dig into research about this condition during the 1960s.
Diagnosis:
Diagnosis is achieved immediately at birth or in early childhood years.
Treatment:
Symptomatic treatment is the present approach to Langer-Giedion Syndrome because it is a genetic disorder; there is no available treatment to completely cure the syndrome.
Present medical practice utilizes the importance of external fixators designed for limbic and facial reconstruction.
Symptoms and Signs:
The signs and symptoms of Langer-Giedion syndrome include the following:
* Short stature
* Unique facial features
* Mild to moderate learning difficulties
* Small head
* Bony growths usually visible from the bone surfaces
* Fine scalp hair
* Large ears
* Bulbous nose
* Deep-set eyes
* Missing teeth
* Elongated and narrow nose
* High and broad eyebrows
Causes:
Langer-Giedion syndrome is caused by a missing chromosomal material; specifically a tiny piece of chromosome 8's long arm. This piece carries a number of genes. Losing these genes is the causative factor for all the symptoms of Langer-Giedion syndrome.
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