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facio-digito-genital_dysplasia_syndrome [2015/11/10 03:52] – external edit 127.0.0.1facio-digito-genital_dysplasia_syndrome [2025/04/18 20:40] (current) – external edit 127.0.0.1
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 ====== Facio-Digito-Genital Dysplasia Syndrome (Aarskog Syndrome) ====== ====== Facio-Digito-Genital Dysplasia Syndrome (Aarskog Syndrome) ======
  
-=====Main Features=====+====Main Features====
  
-Short staturebrachydactylyshawl scrotum+  * Short stature 
 +  * brachydactyly 
 +  * shawl scrotum
  
-=====Eye Findings=====+====Eye Findings====
  
   * Hypertelorism (90%)   * Hypertelorism (90%)
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   * corneal enlargement   * corneal enlargement
  
-=====Etiology=====+====Etiology====
  
   * X-linked recessive, linked to Xp11.21   * X-linked recessive, linked to Xp11.21
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   * 100 cases reported   * 100 cases reported
  
-=====Other Findings=====+====Other Findings====
  
   * Broad upper lip, anteverted nostrils   * Broad upper lip, anteverted nostrils
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   * Stretchable skin   * Stretchable skin
  
-=====References=====+====References====
  
   * [[http://www.omim.org/entry/100050|OMIM 100050]]   * [[http://www.omim.org/entry/100050|OMIM 100050]]