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hadd_syndrome [2022/02/03 02:36] – created Scott Larsonhadd_syndrome [2025/04/18 20:40] (current) – external edit 127.0.0.1
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 ====Eye Findings==== ====Eye Findings====
   * Strabismus: Esotropia    * Strabismus: Esotropia 
- 
 {{::hadds_esotropia.png?400|}} {{::hadds_esotropia.png?400|}}
 +  * Deep-set eyes 
 +  * [[https://elementsofmorphology.nih.gov/index.cgi?tid=5e417df50b2316f4|Synophrys]], Straight eyebrows 
 +  * Astigmatism
 +  * Epicanthal folds
 +  * Hypertelorism
 +  * Downslanting palpebral fissures 
 ====Other Findings==== ====Other Findings====
   * Genitourinary   * Genitourinary
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   * [[https://www.ncbi.nlm.nih.gov/gtr/tests/583110/|EBF3 gene mutation]]   * [[https://www.ncbi.nlm.nih.gov/gtr/tests/583110/|EBF3 gene mutation]]
 ====Reference==== ====Reference====
-  * [[https://www.ncbi.nlm.nih.gov/books/NBK570204/#ebf3-ndd.Summary|EBF3 Neurodevelopmental Disorder]]+  * [[https://www.ncbi.nlm.nih.gov/books/NBK570204/#ebf3-ndd.Summary|Gene Reviews]] 
 +  * [[https://www.ncbi.nlm.nih.gov/medgen/934585|Med Gen Summary]] 
 +  * [[https://www.omim.org/entry/617330|OMIM]]
  
 {{tag>syndrome}} {{tag>syndrome}}