1p36 Deletion Syndrome -CEW

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======1p36 Deletion Syndrome ======
====Main Features====
  * Developmental Delay
  * Seizures
  * Brain Malformation 

====Eye Findings====
  * Poor vision responses (visually inattentive) 44%-64%
  * Strabismus 35%-67%
    * Horizontal
    * Duane Syndrome- 2 cases
  * Refractive Errors
    * Hyperopia 41%-67%
    * Myopia 17%-40%
    * Astigmatism 23%
  * Nystagmus 13%-23%
  * Cataract
    * Unilateral cataract 6%
    * Bilateral lamellar cataract- 2 cases 
  * Retinal "albinism" 6%
  * Optic nerve coloboma 3%
  
====Other Findings====
<WRAP round box>
{{::1p36_deletion_summary.jpg?|}} \\ 
from Reference (2):[[http://www.1p36dsa.org|1p36 Deletion Syndrome Support]]
</WRAP>
  * Microbrachycephaly
  * Distinctive facial features
    * Deep-set eyes, straight eye brows, mid face hypoplasia, broad flat nose, long philtrum, pointed chin, low-set and
    * backwards rotated ears
<WRAP round box>
{{::1p36_syndome_face.jpg|}} \\ 
from Reference (1)
</WRAP>
  * Brachylactyly 
  * camptodactyly 
  * short feet
  * Hearing problems
====Etiology====
  * Deletion of 1p36
  * 1:5,000 newborns
  * Most common terminal deletion syndrome
====Resources====
  - [[https://pubmed.ncbi.nlm.nih.gov/18245432/|Battaglia A et al. Further Delineation of Deletion 1p36 Syndrome in 60 Patients: A Recognizable Phenotype and Common Cause of Developmental Delay and Mental Retardation. Pediatrics 2008;121(2):404-410]]
  - [[http://www.1p36dsa.org|1p36 Deletion Support]]
  - [[https://www.clinicalkey.com/#!/content/playContent/1-s2.0-S1091853121003360?returnurl=https:%2F%2Flinkinghub.elsevier.com%2Fretrieve%2Fpii%2FS1091853121003360%3Fshowall%3Dtrue&referrer=|Danese C et al. Noncongenital juvenile-onset bilateral lamellar cataract in 1p36 deletionsyndrome. Journal of AAPOS 2021;25(6):368-370]] [[https://1drv.ms/b/c/31d83ae8e55e0542/EStOtmEbeAFOg3kXLgGEqaEBBOPJRQWg8I9RROoo9Hu0_Q?e=SBwAZO|-]]



{{tag>syndrome}}
syndrome