prader_willi_syndrome

Prader-Willi Syndrome

  • 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
  • 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
  • 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
  • loss of the paternal copy of chromosome region 15q11-q13
  • prader_willi_syndrome.txt
  • Last modified: 2024/05/20 09:22
  • by oculoman