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GTR Home > Conditions/Phenotypes > Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease

Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease

Synonyms
AUTONOMIC CONTROL, CONGENITAL FAILURE OF; CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 1; ONDINE CURSE, CONGENITAL
Modes of inheritance
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Excerpted from the GeneReview: Congenital Central Hypoventilation Syndrome
Congenital central hypoventilation syndrome (CCHS) represents the extreme manifestation of autonomic nervous system dysregulation (ANSD) with the hallmark of disordered respiratory control. The age of initial recognition of CCHS ranges from neonatal onset (i.e., in the first 30 days of life) to (less commonly) later onset (from 1 month to adulthood). 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. Some children have altered development of neural crest-derived structures (i.e., Hirschsprung disease, altered esophageal motility/dysphagia, and severe constipation even in the absence of Hirschsprung disease) and/or tumors of neural crest origin (neuroblastoma, ganglioneuroma, and ganglioneuroblastoma). Neurocognitive delay is variable, and possibly influenced by cyanotic breath holding, prolonged sinus pauses, need for 24-hour/day artificial ventilation, and seizures. Later-onset CCHS is characterized by alveolar hypoventilation during sleep and attenuated manifestations of ANSD.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Debra E Weese-Mayer
Casey M Rand
Ilya Khaytin
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Available tests

20 tests are in the database for this condition.

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Clinical tests (20 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CCHS, NBLST2, NBPhox, PMX2B, PHOX2B
    Summary: paired like homeobox 2B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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