Langer-Giedion syndrome

Definition

Langer-Giedion syndrome (LGS) is a rare genetic disorder characterized by skeletal abnormalities and dysmorphic (distinctive) facial features. Most people with LGS also have mental retardation.

Description

LGS affects mostly the skeletal system and facial structure. Since the features include abnormalities in the hair (tricho), nose shape (rhino), and fingers and toes (phalangeal), another name for LGS is tricho-rhino-phalangeal syndrome, type II.

Genetic profile

LGS is not usually passed through generations in a family. However, the condition is considered a contiguous-gene syndrome. This means that it is caused by the loss of functional copies of two genes near each other on chromosome 8. Res-search...

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