Growth Failure and Arthritis Caused by Aggrecan Deficiency

Dr. Eirene Alexandrou

There are a number of reasons for growth failure in a child. There are a variety of genetic conditions that cause inherited forms of growth failure. One of these that is being increasingly recognized is aggrecan deficiency. This is a genetic condition that is passed from parent to child in a dominant pattern. To better understand aggrecan deficiency and its impact on growth and bone health, Dr. Eirene Alexandrou studied multliple families. She has now published her findings in the American Journal of Medical Genetics (PubMed link here). This work indicates that aggrecan deficiency is associated with moderate but progressive growth failure. Arthritis was very common among adults with aggrecan deficiency. With increased knowledge and awareness about this condition, the hope is to improve outcomes from earlier detection and treatment.

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