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Langer-Giedion syndrome
What are the symptoms?
The features associated with this condition include mild to moderate learning difficulties, short stature, unique facial features, small head (microcephaly) and skeletal abnormalities including bony growths projecting from the surfaces of bones. These may include benign bony growths on various bones of the body or cone-shaped extensions on the growing ends (epiphyses) of certain bones, particularly in the hands, and specific craniofacial features. Typically individuals with LGS have fine scalp hair, ears which may be large or prominent, broad eyebrows, deep-set eyes, bulbous nose, long narrow upper lip and missing teeth.
Other features associated with this condition may include loose-wrinkled skin and joint laxity or floppiness, hearing loss (see entry, Deafness) and delayed speech (see entry, Speech and Language Impairment). Individuals with LGS may show a susceptibility to infections during the first years of life, especially chest infection. Individuals may show some or all of these features and, in addition, may be differently affected by the severity of their symptoms. The outlook for children with LGS depends greatly on the severity of the features.
Background
| What are the causes? 
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