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  1. 21 Σεπ 2020 · Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS.

  2. 28 Ιαν 2004 · Congenital central hypoventilation syndrome (CCHS) represents the extreme manifestation of autonomic nervous system dysregulation (ANSD) with the hallmark of disordered respiratory control.

  3. Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system (ANS) due to a mutation in the paired-like homeobox 2B (PHOX2B) gene. 1 CCHS patients usually present in the newborn period with apnea, hypoxemia, and hypercapnia without clinical signs of respiratory compromise that occur and are most ...

  4. Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. ORPHA:661. Classification level: Disorder. Synonym (s): CCHS. Congenital central alveolar hypoventilation syndrome. Ondine curse. Ondine syndrome.

  5. 10 Φεβ 2024 · This groundbreaking study pioneers the use of machine learning for screening CCHS based on facial features, offering potential insights for future CCHS-related research.

  6. 27 Σεπ 2016 · Congenital Central Hypoventilation Syndrome (CCHS) patients characteristically present with diminutive tidal volumes and monotonous respiratory rates asleep and awake, with more profound...

  7. 21 Σεπ 2020 · Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS.

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