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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. 18 Αυγ 2016 · 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 ...

  3. 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.

  4. 4 Αυγ 2017 · Congenital central hypoventilation syndrome (CCHS), known colloquially as Ondine's curse, is a rare disorder characterized by impaired autonomic control of breathing during sleep from the loss of vagal input and diminished sensitivity of CO2 receptors in the medulla.

  5. 14 Μαρ 2023 · Congenital central hypoventilation syndrome (CCHS) is a rare, potentially life-threatening disorder. It affects breathing and other automatic bodily functions as early as infancy or later in life. If you notice that you or your baby has symptoms of CCHS, seek medical attention as soon as possible.

  6. Congenital central alveolar hypoventilation in the absence of neuromuscular or lung disease is characterized by normal ventilation while the patient is awake but hypoventilation

  7. 29 Σεπ 2022 · Congenital central hypoventilation syndrome (CCHS) is a rare life-threatening genetic disorder characterized by inadequate central respiratory responses to hypercarbia (CO 2 ) and/or hypoxemia (H + ) particularly during sleep with or without broad spectrum of autonomic nervous system (ANS) dysregulations. 1 2 CCHS is caused by mutations of paire...

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