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prader_willi_syndrome [2024/05/20 13:43] – Scott Larsonprader_willi_syndrome [2025/04/18 20:40] (current) – external edit 127.0.0.1
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 ====Main Features==== ====Main Features====
-  *  +  * Neonatal 
 +    * Neonatal hypotonia 
 +    * Failure to thrive 
 +    * Genital hypoplasia 
 +    * Hypopigmentation of the skin, iris, and hair 
 +  * Childhood 
 +    * Excessive eating and gradual development of morbid obesity 
 +    * Delayed Motor milestones and language development  
 +    * Cognitive impairment
  
 ====Eye Findings==== ====Eye Findings====
-  * decreased visual acuity, iris and choroid hypopigmentation, refractive error, and strabismus[23][24]. Other ocular findings include cataracts, congenital ocular fibrosis syndrome, diabetic retinopathy, nystagmus and congenital ectropion uvea[23][24]. A study using data from 908 participants in the Vision Survey in the Global PWS Registry found that the prevalence of strabismus of Prader-Willi syndrome is 40%, and that 91% of those with strabismus were diagnosed before 5 years old. 42% of Prader-Willi syndrome patients with strabismus had strabismus surgery[25]. 41% of patients had myopia, 25% had hyperopia, 25% had astigmatism, and 16% had amblyopia[25]. There is also an overlap between Prader-Willi Syndrome and oculocutaneous albinism that is attributed to the deletion of the OCA2 gene found in the PWS critical region[24].+  * decreased visual acuity 
 +  * iris and choroid hypopigmentation 
 +  * refractive error 
 +    * Myopia 40% 
 +    * Hyperopia 25% 
 +    * Astigmatism 25% 
 +  * Amblyopia 16% 
 +  * Strabismus 40% 
 +    * congenital ocular fibrosis syndrome 
 +  * cataracts 
 +  * diabetic retinopathy 
 +  * nystagmus 
 +  * congenital ectropion uvea 
 +  * Signs of oculocutaneous albinism can occur if deletion of the OCA2 gene which is found in the PWS critical region
 ====Other Findings==== ====Other Findings====
-  * +  * Short stature and growth hormone deficiency 
 +  * Delayed or incomplete secondary sexual characteristics  
 +  * Obesity complications 
 +    * Sleep apnea 
 +    * Diabetes mellitus 
 +    * Atherosclerosis  
 +  * Epilepsy 
 +  * Scoliosis 
 +  * Behavioral problems and learning difficulties similar to autism spectrum disorder 
 +  * Scoliosis
 ====Etiology==== ====Etiology====
-  *  +  * loss of the paternal copy of chromosome region 15q11-q13
 ==== References ==== ==== References ====
   * [[https://eyewiki.aao.org/Prader-Willi_Syndrome|EyeWiki Article]]   * [[https://eyewiki.aao.org/Prader-Willi_Syndrome|EyeWiki Article]]
 +  * [[https://www.ncbi.nlm.nih.gov/books/NBK1330/#:~:text=Prader%2DWilli%20syndrome%20(PWS)%20is%20a%20complex%2C%20multisystem,short%20stature%20if%20untreated%20with|Gene Reviews]]
  
 {{tag>syndrome}} {{tag>syndrome}}