TABLE 1

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