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.
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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