What is Congenital Central Hypoventilation Syndrome

Congenital Central Hypoventilation Syndrome
Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system that affects breathing. It causes a person to hypoventilate (especially during sleep), resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. It have two forms of presentation, a classic form that usually begin shortly after birth in newborns, and a milder later-onset presentaition in toddlers, children and adults. Affected infants hypoventilate upon falling asleep and exhibit a bluish appearance of the skin or lips (cyanosis). Other features may include difficulty regulating heart rate and blood pressure; decreased perception of pain; low body temperature; sporadic profuse sweating; Hirschsprung disease; constipation; learning difficulties; eye abnormalities; and a characteristic facial appearance (having a short, wide, somewhat flattened face). They can also have tumors of neural crest origin, such as neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. The later-onset  form is milder, and some cases may present as infants and children who die suddenly and unexpectedly ("SIDS" and "sudden unexplained death of childhood [SUDC]"). 

CCHS is caused by a variation (mutation) in the PHOX2B gene and is inherited in an autosomal dominant manner. However, over 90% of cases are due to a new mutation in the affected person and are not inherited from a parent. Diagnosis is made with the clinical symptoms and the genetic test showing the variation in the PHOX2B gene. Treatment typically includes mechanical ventilation or use of a diaphragm pacemaker. People who have been diagnosed as newborns and adequately ventilated throughout childhood may reach the age of 20 to 30 years, and can live independently.  In the later-onset form, people who were diagnosed when they were 20 years or older have now reached the age of 30 to 55 years.

Adjuvant Treatment


Symptoms Related
Related Articles
Diseases, Symptoms,  tcm, [tcmwindow.com]
Senior Expert Service
--Provide professional and valuable advice on health issues.

--One-to-one full service by assigned experienced expert.
Tailor-Made
--We customize your diagnosis based on syndrome differentiation.

--We customize prescriptions to meet specific needs of your condition.
Quality Guarantee
--We use only natural medicines approved by SFDA.

--We guarantee TCM product of unsurpassed quality.
Economical & Personalized
--We help you to save a lot of examination fees.

--24 hours online, all service to meet your own needs.


Copyright @2000-2025 tcmwindow.com. All Rights Reserved.
E-MAIL:tcmwindow@yahoo.com