======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====
  * {{::1p36_deletion_summary.png?|}}\\ from Reference (2):[[http://www.1p36dsa.org|1p36 Deletion Syndrome Support]]
  * 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
    * {{::1p36_syndome_face.png|}} \\ from Reference (1)
  * Brachylactyly 
  * camptodactyly 
  * short feet
  * Hearing problems
====Etiology====
  * Deletion of 1p36
  * 1:5,000 newborns
  * Most common terminal deletion syndrome
====Resources====

  - {{::1p36_syndome_in_60_patients_2007.pdf |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]]
  - {{::cataract_in_1p36_deletion_syndrome.pdf |Danese C et al. Noncongenital juvenile-onset bilateral lamellar cataract in 1p36 deletionsyndrome. Journal of AAPOS 2021;25(6):368-370}}



{{tag>syndrome}}