Prader-Willi Syndrome
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
- 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
- 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
- loss of the paternal copy of chromosome region 15q11-q13