Mild optic nerve hypoplasia with retinal venous tortuosity in aarskog (facial-digital-genital) syndrome

Ophthalmic Genet. 2005 Sep;26(3):139-41. doi: 10.1080/13816810500229025.


Aarskog syndrome (faciogenital dysplasia) is an X-linked recessive genetic growth disorder characterized by short stature, dysmorphic facies, shawl scrotum, and digital anomalies. The condition was first described in 1970 and the gene responsible is FGD1 (MIM#305400). There are several reported ophthalmic findings associated with Aarskog syndrome which are discussed. We describe a case of Aarskog syndrome with venous tortuosity, optic nerve hypoplasia, and a type-2 antithrombin deficiency.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Facial Bones / abnormalities*
  • Genitalia, Male / abnormalities*
  • Hand Deformities / genetics*
  • Humans
  • Hypertelorism / genetics
  • Male
  • Optic Nerve / abnormalities*
  • Retinal Vein / abnormalities*
  • Retrospective Studies
  • Syndrome