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Langer Giedion Syndrome

Langer 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 (thanks to for the image), 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 , 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 (thanks to for the link). Exostoses are extra bone and this occurs in 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 hyper-extensible. 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 micro-deletions 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.


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.

 Langer Giedion Syndrome (Exostosis In Lower Part Of Femur)

Langer Giedion Syndrome (Exostosis In Lower Part Of Femur)


1. Goldman: Cecil Medicine, 23rd ed., Copyright © 2007 Saunders, An Imprint of Elsevier: Chromosomal Disorders

2. German website:

Last modified: October 22, 2014

This outline is only a teaching aid to patients and should stimulate you to ask the right questions when seeing your doctor. However, the responsibility of treatment stays in the hands of your doctor and you.