What is Aarskog Syndrome

Aarskog syndrome is an genetic disorder. Aarskog syndrome causes changes in the size and shape of certain bones and cartilage in the body. The face, fingers, and toes are most often affected. Aarskog syndrome is caused by a gene mutation that is passed from mothers to male children.

The main symptoms of Aarskog syndrome are disproportionately short stature and abnormalities of the head and face. There is no known cure for Aarskog syndrome. Treatment is limited to surgical procedures to treat conditions caused by the disorder and supportive treatment.

Reference for Aarskog Syndrome Article

National Institutes of Health

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