Clinical Findings in PWS
Fetal |
Breech position |
Reduced fetal activity |
Polyhydramnios |
Growth |
Short stature |
Failure to thrive in infancy |
Central obesity |
Head and neck |
Dolichocephaly |
Narrow bitemporal diameter |
Almond-shaped eyes |
Strabismus |
Up-slanting palpebral fissures |
Myopia |
Hyperopia |
Thin upper lip |
Small-appearing mouth |
Down-turned corners of mouth |
Thick, viscous (reduced) saliva |
Enamel hypoplasia |
Early dental caries |
Dental crowding and malocclusion |
Ocular |
Strabismus |
Nystagmus |
Cataracts (rare) |
Retinal hypopigmentation |
Foveal hypoplasia |
Hyperopia |
Myopia |
Respiratory |
Hypoventilation |
Obstructive sleep apnea |
Central sleep apnea |
Gastrointestinal |
Feeding problems in infancy |
Gastroesophageal reflux |
Decreased vomiting |
Genitourinary |
Small penis |
Scrotal hypoplasia |
Cryptorchidism |
Hypoplastic labia minora |
Hypoplastic clitoris |
Skeletal |
Osteoporosis |
Osteopenia |
Scoliosis |
Kyphosis |
Small hands and feet |
Narrow hands with straight ulnar border |
Clinodactyly |
Skin, nails, hair |
Hypopigmentation |
Blonde to light-brown hair |
Frontal hair upsweep |
Neurologic |
Severe neonatal hypotonia that improves with age |
Poor neonatal suck and swallow reflexes |
Poor gross motor coordination |
Poor fine motor coordination |
Mild-to-moderate mental retardation |
Learning disabilities |
Increased risk of seizures |
Global developmental delay |
Speech-articulation problems |
Hyperphagia |
Sleep |
Snoring/obstructive sleep apnea |
Central apnea during sleep |
Excessive daytime sleepiness |
Early-morning waking |
Night-awakening for food-seeking |
Voice |
Hypernasal speech |
Weak or squeaky cry in infancy |
Endocrine |
Hyperinsulinemia |
GH deficiency |
Hypogonadotropic hypogonadism |
Diabetes mellitus (type 2) |
Behavior/mental health |
Skin picking |
Rectal picking |
Food related behavioral problems |
Temper tantrums |
Difficulty with transitions |
Stubbornness |
Obsessive behaviors |
Perseverant speech |
Obsessive-compulsive disorder |
Psychosis |
Elopement |
Miscellaneous |
Temperature instability |
High pain threshold |
Unusual skill with jigsaw puzzles |
Fetal |
Breech position |
Reduced fetal activity |
Polyhydramnios |
Growth |
Short stature |
Failure to thrive in infancy |
Central obesity |
Head and neck |
Dolichocephaly |
Narrow bitemporal diameter |
Almond-shaped eyes |
Strabismus |
Up-slanting palpebral fissures |
Myopia |
Hyperopia |
Thin upper lip |
Small-appearing mouth |
Down-turned corners of mouth |
Thick, viscous (reduced) saliva |
Enamel hypoplasia |
Early dental caries |
Dental crowding and malocclusion |
Ocular |
Strabismus |
Nystagmus |
Cataracts (rare) |
Retinal hypopigmentation |
Foveal hypoplasia |
Hyperopia |
Myopia |
Respiratory |
Hypoventilation |
Obstructive sleep apnea |
Central sleep apnea |
Gastrointestinal |
Feeding problems in infancy |
Gastroesophageal reflux |
Decreased vomiting |
Genitourinary |
Small penis |
Scrotal hypoplasia |
Cryptorchidism |
Hypoplastic labia minora |
Hypoplastic clitoris |
Skeletal |
Osteoporosis |
Osteopenia |
Scoliosis |
Kyphosis |
Small hands and feet |
Narrow hands with straight ulnar border |
Clinodactyly |
Skin, nails, hair |
Hypopigmentation |
Blonde to light-brown hair |
Frontal hair upsweep |
Neurologic |
Severe neonatal hypotonia that improves with age |
Poor neonatal suck and swallow reflexes |
Poor gross motor coordination |
Poor fine motor coordination |
Mild-to-moderate mental retardation |
Learning disabilities |
Increased risk of seizures |
Global developmental delay |
Speech-articulation problems |
Hyperphagia |
Sleep |
Snoring/obstructive sleep apnea |
Central apnea during sleep |
Excessive daytime sleepiness |
Early-morning waking |
Night-awakening for food-seeking |
Voice |
Hypernasal speech |
Weak or squeaky cry in infancy |
Endocrine |
Hyperinsulinemia |
GH deficiency |
Hypogonadotropic hypogonadism |
Diabetes mellitus (type 2) |
Behavior/mental health |
Skin picking |
Rectal picking |
Food related behavioral problems |
Temper tantrums |
Difficulty with transitions |
Stubbornness |
Obsessive behaviors |
Perseverant speech |
Obsessive-compulsive disorder |
Psychosis |
Elopement |
Miscellaneous |
Temperature instability |
High pain threshold |
Unusual skill with jigsaw puzzles |