This is an old revision of the document!
- 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, 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].
- loss of the paternal copy of chromosome region 15q11-q13
oculoman