Congenital Central Hypoventilation Syndrome synonyms

Congenital Central Hypoventilation Syndrome (CCHS) is a rare genetic disorder that affects the autonomic control of breathing. It is also known by several other names, including:

• Ondine's Curse: This term is derived from a mythological character named Ondine, who was cursed to forget to breathe while sleeping. It highlights the characteristic symptom of CCHS, which is the inability to breathe adequately during sleep.


• Primary Central Hypoventilation Syndrome: This name emphasizes that CCHS is a primary disorder affecting the central respiratory centers in the brain, leading to hypoventilation (reduced breathing).


• PHOX2B-Related Disorders: This term refers to the underlying genetic mutation responsible for CCHS, which occurs in the PHOX2B gene. It encompasses a spectrum of related disorders, including CCHS.


• Central Alveolar Hypoventilation Syndrome: This name highlights the specific area of the lungs affected by CCHS, which is the alveoli. Alveoli are tiny air sacs where oxygen and carbon dioxide exchange occurs.

CCHS is characterized by a dysfunction in the automatic control of breathing, particularly during sleep. Individuals with CCHS may have normal breathing while awake, but their breathing becomes inadequate or even absent during sleep, leading to low levels of oxygen and high levels of carbon dioxide in the blood. This can result in various symptoms, such as daytime sleepiness, difficulty waking up, and in severe cases, life-threatening complications.

The condition is typically diagnosed in infancy or early childhood, and lifelong management is required. Treatment options include assisted ventilation during sleep, such as using a ventilator or a diaphragm pacemaker, to ensure adequate breathing. Regular monitoring and follow-up with healthcare professionals are essential to manage the condition effectively.

Congenital Central Hypoventilation Syndrome and its synonyms describe a complex disorder that affects the respiratory control system. Understanding the various names associated with CCHS can help raise awareness and facilitate communication among healthcare providers, individuals with the condition, and their families.

by Diseasemaps