Dx, Prader-Willi Syndrome
<p><b>Diagnostic Criteria for Prader-Willi Syndrome</b>
 
<b>Major criteria</b>
Characteristic facial features (may include almond-shaped eyes, down-turned mouth, narrow bifrontal diameter, strabismus, thin upper lip.
Developmental delay
Feeding problems/failure to thrive during infancy
 
Hypogonadism (may include cryptorchidism, hypoplastic scrotum, and small testes in males; hypoplastic labia minora and clitoris in females; and pubertal deficiency)
 
Infantile central hypotonia
Rapid weight gain between 1 and 6 years of age
<b>Minor criteria</b>
Decreased fetal movement and infantile lethargy
Esotropia, myopia
Hypopigmentation
Narrow hands with straight ulnar border
Short stature (compared with family members)
Skin picking
Sleep disturbance/sleep apnea
Small hands and feet
Speech articulation defects
Thick, viscous saliva
Typical behavioral problems
NOTE: Score 1 point for each major criterion and 0.5 point for each minor criterion. A diagnosis of Prader-Willi syndrome should be suspected in children younger than three years with a score of at least 5; and in children three years and older with a score of at least 8, with 4 points from major criteria. Supportive criteria (no points) include high pain threshold, decreased vomiting, temperature control problems, scoliosis, kyphosis, early adrenarche, osteoporosis, unusual skill with jigsaw puzzles, and normal neuromuscular studies.</p>