Congenital central alveolar sleep-related hypoventilation

Description

Congenital central alveolar hypoventilation syndrome (CCHS) is a disorder of autonomic dysfunction, primarily the failure of automatic central control of breathing, caused by a mutation of the PHOX2B gene. CCHS is characterised by hypoventilation, which is worse during sleep than wakefulness. Onset is usually at birth, and CCHS most commonly presents in an otherwise normal-appearing infant who is noted to have cyanosis, feeding difficulties, hypotonia or, less commonly, central apnoea. Severity is related to the specific mutation present. Individuals with milder variants of the disorder may not present for clinical attention until adulthood. Note: A definitive diagnosis requires demonstration of PHOX2B mutation and objective evidence based on polysomnography with carbon dioxide (CO2) monitoring (by arterial, end-tidal or transcutaneous measures).

Index terms

Congenital central alveolar sleep-related hypoventilation
CCHS - [Congenital central hypoventilation syndrome]
Congenital central hypoventilation syndrome

Show allHide

Ondine syndrome
Ondine's curse
apnoea of newborn, due to congenital hypoventilation syndrome

Exclusions from above levels

KB2A – Apnoea of newborn

Sibling codes

7A42.0 – Obesity hypoventilation syndrome
7A42.2 – Non-congenital central hypoventilation with hypothalamic abnormalities
7A42.3 – Idiopathic central alveolar hypoventilation
7A42.4 – Sleep-related hypoventilation due to a medication or substance
7A42.5 – Sleep-related hypoventilation due to medical condition
7A42.6 – Sleep-related hypoxemia due to a medical condition
7A42.Y – Other specified sleep-related hypoventilation or hypoxemia disorders
7A42.Z – Sleep-related hypoventilation or hypoxemia disorders, unspecified

Foundation entity

Congenital central alveolar sleep-related hypoventilation – http://id.who.int/icd/entity/1750742010

Part of: 7A42: Sleep-related hypoventilation or hypoxemia disorders › 07: Sleep-wake disorders