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.

References:

Aarskog D (1970). "A familial syndrome of short stature associated with facial dysplasia and genital anomalies". J. Pediatr. 77 (5): 856–61
Scott CI (1971). "Unusual facies, joint hypermobility, genital anomaly and short stature: a new dysmorphic syndrome". Birth Defects Orig. Artic. Ser. 7 (6): 240–6.
Orrico A, Galli L, Buoni S, Hayek G, Luchetti A, Lorenzini S, Zappella M, Pomponi MG, Sorrentino V. Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). Am J Med Genet A. 2005 May 15;135(1):99-102.
A.D.A.M, U.S. National Library of Medicine, Wikepedia

Published on Mar 27, 2013
Last Updated on Oct 09, 2014