Langer-Giedion syndrome
Langer-Giedion syndrome 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.
Langer-Giedion syndrome 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.
Langer-Giedion syndrome Diagnosis
Diagnosis is achieved immediately at birth or in early childhood years.
Langer-Giedion syndrome 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
Langer-Giedion syndrome 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.