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Condition report · Respiratory

Congenital Central Hypoventilation Syndrome

A rare inherited disorder of the automatic control of breathing, in which breathing becomes too shallow, especially during sleep. It is usually caused by changes in the PHOX2B gene and most often appears in newborns, though milder forms can first be recognised in later childhood or adulthood.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Autosomal dominant

Reduced automatic breathing drive, most pronounced during sleep, usually caused by PHOX2B variants and sometimes accompanied by Hirschsprung disease or, with certain variants, a risk of neural crest tumours such as neuroblastoma.

What a diagnosis changes

Knowing allows sleep studies with carbon dioxide monitoring, breathing support where needed, extra caution with anaesthesia and sedative medicines, and testing of parents and children.

Genes analysed

Includes 3 related subtypes ↓
  • central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
  • central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
  • central hypoventilation syndrome, congenital, 3
MONDO:0800031MedGen 220902

Limitations

  • Most cases are caused by expansions of a polyalanine repeat in exon 3 of PHOX2B, in a GC-rich region where short-read sequencing aligns and calls variants unreliably. Expansions, particularly the milder 20/24 and 20/25 genotypes, may be missed and need confirmation with a dedicated test.
  • Low-level mosaicism in a parent, which is a known source of inherited cases, is likely to be missed.

Other respiratory conditions

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