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Aarskog syndrome is an inherited disease characterized by short stature, facial abnormalities, musculoskeletal, and genital anomalies. Intelligence is usually normal.

Aarskog syndrome is an x-linked recessive genetic disorder. This disorder affects mainly males, although females may have a milder manifestation of some of the features. It is caused by mutations in a gene called FGDY1 found on the X chromosome, specifically Xp11.21.

It is also known as, Aarskog-Scott syndrome (ASS), Greig syndrome, facial-digital-genital syndrome, facio-digito-genital syndrome, and shawl scrotum syndrome.

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Family Village - Aarskog Syndrome - Offers links for support and information concerning this disease.

National Library of Medicine - Aarskog syndrome, the synonyms, a summary and a list of the major features.

NORD: Aarskog Syndrome - A look at the alternate names, a general discussion and resources.
Meta Description: [ National Organization for Rare Disorders is dedicated to helping people with rare, orphan diseases. Rarediseases.org contains information on the prevention, treatment and cure of rare diseases. ]

OMIM: National Center for Biotechnology Information - Clinical synopsis for Aarskog syndrome.

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