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- 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
- 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.
- 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 those found in autism spectrum disorder are commonly seen in Prader-Willi syndrome[18]. Patients can also exhibit rectal gouging and skin-picking behavior that may respond to N-acetylcysteine treatment[19]. Mood disorders and psychotic states among other psychiatric symptoms and disorders have been reported among adults[20]. Cognitive impairment is also commonly associated with Prader-Willi syndrome[21]. Abnormal food-seeking behaviors among Prader-Willi syndrome patients include stealing food, eating garbage, and eating frozen food. Decreased vomiting ability and increased pain tolerance have been associated with Prader-Willi syndrome[22].
- Scoliosis
- loss of the paternal copy of chromosome region 15q11-q13
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