A rare syndromic endocrine disease characterized by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia, hypothalamic dysfunction and neurobehavioral disorders. Central hypothyroidism, endocrine anomalies, electrolyte imbalances and respiratory failure may also be associated.

An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.