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Aarskog syndrome (facial-digital-genital syndrome)


Aarskog Syndrome (Facial-Digital-Genital Syndrome)

General: X-linked recessive; males full 131b12b y 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; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

Porteous MEM, Goudie DR. Aarkog syndrome. J Med Genet





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