Aarskog – Scott Syndrome Diagnosis, Treatment and Support Groups

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Aarskog – Scott Syndrome Diagnosis, Treatment and Support Groups

Genetic test for FGD1 gene may help in diagnosing Aarskog syndrome. Treatment targets the correction of some of the anomalies.

Diagnosis

Aarskog–Scott syndrome may be diagnosed by genetic testing for mutations in the "faciogenital dysplasia" (FGD1) gene. Overlapping features with a condition called fetal alcohol syndrome may result in clinical misdiagnosis.

Treatment

Treatment targets the correction of some of the anomalies. Surgery may be required in some cases. Some of the abnormal facial features are corrected with orthodontic treatment. Trials of growth hormone have shown promising results in treating short stature (height).

Support Groups

The MAGIC Foundation for Children's Growth is a support group for Aarskog syndrome. More information is available at www.magicfoundation.org.

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