Aarskog scott syndrome. Aarskog

Aarskog

The FGD1 gene provides instructions for making a protein that turns on activates another protein called Cdc42, which transmits signals that are important for various aspects of development before and after birth. FGD1 encodes a GEF that specifically activates , a member of the Ras homology family of the p21. Trials of have been effective to treat short stature in this disorder.

Aarskog

Mutations in the FGD1 gene lead to the production of an abnormally functioning protein. The characterization of the of FGD1 expression in mouse embryos has provided important clues to the understanding of the of Aarskog—Scott syndrome.

Aarskog

By activating Cdc42, FGD1 stimulates to form filopodia, cytoskeletal elements involved in cellular signaling, adhesion, and migration. Some may have mild learning and behavior problems, while others have normal intelligence. Other examinations or tests can help with diagnosis.

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Aarskog

Other abnormalities in people with Aarskog—Scott syndrome include heart defects and a split in the upper lip with or without an opening in the roof of the mouth. Some males may have problems with fertility.

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Aarskog

Most males with Aarskog—Scott syndrome have a , in which the scrotum surrounds the penis instead of hanging below. The intellectual development of people with Aarskog—Scott syndrome varies widely.

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Aarskog

This article incorporates text from this source, which is in the.

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Aarskog

Only about 20 percent of people with this disorder have identifiable mutations in the FGD1 gene. Smith's Recognizable Patterns of Human Malformation 6th ed. Retrieved 18 June 2014.