Links & publications

The below links, articles and publications have been collected here for further reading on CCHS. Please note that some publications are written for an audience of medical professionals.

General Information

UK CCHS Information Leaflet
Download here (PDF)

EU Patient Information Booklet
Download here (PDF)

Contact a family
Contact a family Website (Link)

US CCHS Family Network
US CCHS Family Network Website (Link)

European CHS Network
European CHS Network Website (Link)

Ondine's curse (Link)

Social networks

CCHS International Facebook Group
CCHS International Facebook Group (Link)


Cardiovascular Abnormalities and Arrhythmias in Patients with Ondine's Curse (Congenital Central Hypoventilation) Syndrome
Download here (PDF)

Cardiac Pacing in a Patient with Diaphragm Pacing for Congenital Central Hypoventilation Syndrome (Ondine's Curse) 
This publication expands on the relationship between different PHOX2B mutations and CCHS
Download here (PDF)

Congenital Central Hypoventilation Syndrome: PHOX2B Genotype Determines Risk for Sudden Death
This publication explores a relationship between the PHOX2B gene and cardiovascular regulation. 
Download here (PDF)


PHOX2B Mutation - confirmed Congenital Central Hypoventilation Syndrome
This publication presents the association between PHOX2B and CCHS
Download here (PDF)

PHOX2B Mutations and Phenotype
Download here (PDF)

An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome
This publication discusses PHOX2B testing in diagnosis and recent advances in treatment
Download here (PDF)

Learning and education

Congenital Central Hypoventilation Syndrome: Neurocognitive Functioning in School Age Children
This publication explores a relationship between young CCHS patients and measures of intellectual ability
Download here (PDF)


Mask ventilation in the early management of Congenital Central Hypoventilation Syndrome
Download here (PDF)

From Hospital to Home
Download here (PDF)


Epidemiologic Survey of 196 Patients With Congenital Central Hypoventilation Syndrome
This paper details the results of a large survey of CCHS children covering medical and social characteristics
Download here (PDF)

The French Congenital Central Hypoventilation Syndrome Registry
Download here (PDF)

Facial Phenotype in Children and Young Adults with PHOX2B - Determined Congenital Central Hypoventilation Syndrome: Quantitative Pattern of Dysmorphology
Download here (PDF)