Table of Contents

Prader-Willi Syndrome

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

References