Aarskog syndrome

Diagnosis and Testing

What clinical features can female carriers of Aarskog syndrome have?

Females who are known carriers of Aarskog syndrome can have mild features of the condition. These may include a widow's peak in their hair or short stature. Some female carriers of Aarskog syndrome do not have any clinical features.

Orrico A, Galli L, Faivre L, Clayton-Smith J, Azzarello-Burri SM, Hertz JM, Jacquemont S, Taurisano R, Arroyo Carrera I, Tarantino E, Devriendt K, Melis D, Thelle T, Meinhardt U, Sorrentino V. 2010. Aarskog-Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene. American Journal of Medical Genetics Part A 152A: 313-318. PubMed ID: 20082460

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