Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
ORPHA:293987· ICD-10 E66.8
Definition
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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Unknown
- Age of onset
- Childhood, Infancy