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Central Hypoventilation Syndrome, Congenital

Abstract

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NORD is very grateful to the following experts for assistance in the preparation of this report: Debra E. Weese-Mayer, MD, Professor of Pediatrics at Northwestern University Feinberg School of Medicine and Director, Center for Autonomic Medicine in Pediatrics (C.A.M.P.), Children's Memorial Hospital; Pallavi P. Patwari, MD, Assistant Professor of Pediatrics, Northwestern University Feinberg School of Medicine, Center for Autonomic Medicine in Pediatrics (C.A.M.P.), Children's Memorial Hospital.

Synonyms of Central Hypoventilation Syndrome, Congenital

autonomic control, congenital failure of
CCHS
CCHS with Hirschsprung disease, included
Haddad syndrome
OHD
Ondine curse, congenital
Ondine-Hirschsprung disease, included

Disorder Subdivisions

No subdivisions found.

General Discussion

Congenital central hypoventilation syndrome (CCHS) is a rare disorder of respiratory control with autonomic nervous system dysregulation (ANSD). The autonomic nervous system is the portion of the nervous system that controls or regulates certain involuntary body functions including heart rate, blood pressure, temperature regulation, breathing, bowel and bladder control, and more. Impaired breathing regulation (respiratory control) is the hallmark of CCHS. Individuals with CCHS typically present in the newborn period with inadequate shallow breathing (alveolar hypoventilation) during sleep and, in more severely affected individuals, during wakefulness and sleep. Breathing complications occur despite the lungs and airways being normal. A growing number of individuals are now being identified who present in later infancy, childhood, or even adulthood and are called Late Onset Congenital Central Hypoventilation Syndrome (LO-CCHS).

All individuals with CCHS have a mutation in the PHOX2B gene. The PHOX2B gene plays an important role in the development of the Autonomic Nervous System (ANS). The normal PHOX2B gene has a section with 20 repeats of a code for the amino acid, alanine. For those individuals with CCHS, the majority (~90%) have a mutation causing an increase in the number of these alanine repeats. This is called a polyalanine repeat expansion mutation (PARM). The remaining individuals with CCHS have a different type of abnormality in the PHOX2B gene. These other mutations in the PHOX2B gene are called a non-polyalanine repeat expansion mutation (NPARM).

Organizations related to Central Hypoventilation Syndrome, Congenital

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