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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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Congenital Central Hypoventilation Syndrome (CCHS) is a rare...
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Introduction. Hirschsprung’s disease is a congenital defect...
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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 ...
14 Μαρ 2023 · What causes congenital central hypoventilation syndrome? A mutation in the PHOX2B gene causes CCHS. The gene helps make a protein important to the production of nerve cells during fetal development. Most cases of CCHS involve a sporadic (new, sudden) mutation, but the mutation can be inherited.
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 CO 2 receptors in the medulla.
28 Ιαν 2004 · Neonatal-onset CCHS is characterized by apparent hypoventilation with monotonous respiratory rates and shallow breathing either during sleep only or while awake as well as asleep; ANSD including decreased heart rate beat-to-beat variability and sinus pauses; altered temperature regulation; and altered pupillary response to light.
28 Φεβ 2018 · Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder defined by a failure in autonomic control of breathing secondary to mutations in the paired-like homeobox (PHOX2B) g...
CCHS is caused by a genetic mutation affecting a particular gene named PHOX2B. This gene is responsible for the development of nerves early in pregnancy to form specific types of nerve cells, especially in the autonomic nervous system. As the nerve cells do not work as they should, messages between the body and brain are not passed on correctly.
