This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent infections. Signs and symptoms may vary among affe ...
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Last Updated: 06/22/2011