Prader-Willi Syndrome:
Most common known genetic cause of life-threatening obesity in children
Etiology: Abnormality on the 15th chromosome. Occurs in males and females equally and in all races. Prevalence estimates of 1:8,000 to 1:25,000.
Diagnosis: A number of clinical findings at birth will lead to DNA testing. Methylation analysis confirms diagnosis.
Systemic/medical conditions: Neonatal and infantile central hypotonia which improves with age. Feeding problems and poor weight gain in infancy. Excessive or rapid weight gain between 1 to 6 years of age. Central obesity without intervention. Facial features present with dolichocephaly in infants, narrow face/bifrontal diameter, almond shaped eyes, small appearing mouth with a thin upper lip and down-turned corners of mouth. Hypogonadism, genital hypoplasia including undescended testes and small penis. Delayed or incomplete gonadal maturation and delayed pubertal signs. Global developmental delay before age 6, mild to moderate retardation or learning problems. Hyperphagia/food foraging/obsession with food.
Oral manifestations: Thick viscous saliva with crusting at corners of the mouth. Speech articulation problems. Hypotonia may create feeding problems. May include soft enamel, poor oral hygiene, teeth grinding and infrequently rumination.
Dental needs: Frequent hygiene visits, restorations if necessary. products to increase saliva flow.
Recent info: Life expectancy may be normal if weight is controlled and regulated.
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