Langer
Giedion SyndromeLanger Giedion syndrome (also called “Trichorhinophalangeal
syndrome, type II) is a genetic disorder where a small piece of the long
arm of chromosome 8 is missing, which contains a number of regulatory
genes important for normal development. As a result there are characteristic facial features,
small stature, a mild to moderate learning disability, skin, hair and bone abnormalities.
Signs and symptoms These persons have a triangular
shaped face as seen in this little
boy , often there is a bulbar pear shape nose, sparse hair growth of the
eye brows in the lateral aspect (on each side). There are deformed and laterally
protruding (sideward projecting) earlobes. There are exostoses
(extra bone) of ribs, the shoulder blade (scapula) and long bones. The hands are
short and stubby, with deformed fingers and sometimes syndactyly.
Speech development is delayed and mental retardation is common. There is conductive
hearing loss. Joints are hyperextensible. There can be hormonal abnormalities
such as idiopathic hypoglycemia, diabetes, hypothyroidism or growth hormone deficiency.
There can also be urogenital abnormalities such as ureter bladder junction stenosis
or reflux, heart abnormalities and renal defects. Hair growth is sparse and hair
tends to be brittle and there can be extra skin folds. Typical findings on x-rays
are the cone-shaped epiphyses of the fingers. Diagnostic test The microdeletions can
be identified with fluorescent probes specific for 8q24.1 (Langer Giedion syndrome).
Short metacarpal bones are apparent on X-rays with cone-shaped epiphyses. Treatment
As this is a genetic syndrome, there is no treatment for this. These individuals
will need to live in a supportive environment and often end up in a specialized
home that is equipped to deal with these patients.
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