Langer Giegion Syndrome

What is Langer Giedion syndrome?

Langer Giedion syndrome is a genetic abnormality where a small piece of the long arm of chromosome 8 is missing. This chromosome contains a number of regulatory genes important for normal development. As a result, there are characteristic differences in patients with Langer Giedion Ray Ban sale syndrome.

What are the signs and symptoms of Langer Giedion syndrome?

Signs and symptoms of Langer Giedion syndrome include:
• triangular shaped face;
• bulbar pear shape nose;
• sparse hair growth of the eye brows;
• deformed and sideward projecting earlobes;
• extra rib bone (exostoses);
• extra shoulder blade (scapula) bone;
• extra long bones;
• short and stubby hands with deformed fingers and sometimes webbing between the fingers (syndactyly);
• delayed speech development;
• mental retardation;
• conductive hearing loss;
• hyper-extensible joints;
• hormonal abnormalities (such as idiopathic hypoglycemia, diabetes, hypothyroidism or growth hormone deficiency);
• urogenital abnormalities (such as ureter bladder junction stenosis or reflux);
• heart abnormalities;
• renal defects;
• sparse growth of brittle hair; and
• cone-shaped long bones (epiphyses) of the fingers.

How is Langer Giedion treated?

There is no treatment as this is a genetic abnormality. These individuals will need a supportive environment and often live in a specialized home that is equipped to provide the required care.

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