prader_willi_syndrome

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prader_willi_syndrome [2024/05/20 09:00] oculomanprader_willi_syndrome [2024/05/20 09:22] (current) oculoman
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     * Excessive eating and gradual development of morbid obesity     * Excessive eating and gradual development of morbid obesity
     * Delayed Motor milestones and language development      * Delayed Motor milestones and language development 
-    * Cognitive impairment.+    * Cognitive impairment
  
 ====Eye Findings==== ====Eye Findings====
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   * nystagmus   * nystagmus
   * congenital ectropion uvea   * congenital ectropion uvea
-  * 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.+  * 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   * Scoliosis
 ====Etiology==== ====Etiology====
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  • Last modified: 2024/05/20 09:00
  • by oculoman