Langer-Giedion syndrome is a very rare genetic disorder caused
by a deletion of chromosomal material. It is named after the two
doctors who undertook the main research into the condition in
the 1960s. Diagnosis is usually made at birth or in early
childhood. more... The syndrome occurs when a small piece of
chromosome 8’s long arm, which contains a number of genes is
missing. The loss of these genes is responsible for some of the
overall characteristics of Langer-Giedion syndrome. The features
associated with this condition include mild to moderate learning
difficulties, short stature, unique facial features, small head
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 of certain bones, particularly in the hands,
and specific craniofacial features. Typically individuals with
Langer-Giedion syndrome have fine scalp hair, ears, which may be
large, or prominent,