====== Facio-Digito-Genital Dysplasia Syndrome (Aarskog Syndrome) ======

====Main Features====

  * Short stature
  * brachydactyly
  * shawl scrotum

====Eye Findings====

  * Hypertelorism (90%)
  * Ptosis (50%)
  * Downslanting palpebral fissures
  * Strabismus
  * Hyperopic astigmatism
  * latent nystagmus
  * blue sclera
  * posterior embryotoxin
  * corneal enlargement

====Etiology====

  * X-linked recessive, linked to Xp11.21
  * Female carriers have minor manifestations
  * 100 cases reported

====Other Findings====

  * Broad upper lip, anteverted nostrils
  * Osteoconditis dessicans
  * Stretchable skin

====References====

  * [[http://www.omim.org/entry/100050|OMIM 100050]]
  * [[http://www.omim.org/entry/305400?search=%2A305400&highlight=%2A305400|OMIM #305400]]
  * //Pediatric Ophthalmology and Strabismus// eds. Wright KW, Spiegel PH. 2nd ed. p.1029

{{tag>syndrome}}