Aarskog Syndrome

Aarskog Syndrome (Facial-Digital-Genital Syndrome) 3

General: X-linked recessive; males fully affected; females exhibit partial features; normal birth weight and length.

Ocular: Telecanthus; hypertelorism; unilateral or bilateral blepharoptosis; strabismus; hyperopic astigmatism; large cornea.

Clinical: Short stature; triangular facies; deformity of hands and feet; anomalies of external genitalia; inguinal hernia; protruding umbilicus; abnormal cervical vertebrae; cryptorchidism.

Kirham TH, et al. Ophthalmic manifestations of Aarskog (facial-digital-genital) syndrome. Am J Ophthalmol 1975; 79:441-445.

Magalini SI, Scrascia E. Dictionary of medical syndromes. 2nd ed. Philadelphia: JB Lippincott, 1981.

McKusick VA. Mendelian inheritance in man, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Porteous MEM, Goudie DR. Aarkog syndrome. J Med Genet 1991; 28:44-47.