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Central Hypoventilation Syndrome, Congenital, 1; CCHS1

OMIM number: #209880

Comments closing date: 29/04/2022

Congenital central hypoventilation syndrome
(CCHS) is a disorder that affects normal breathing.
People with this disorder take shallow breaths
(hypoventilate), especially during sleep, resulting
in a shortage of oxygen and a buildup of carbon
dioxide in the blood. Ordinarily, the part of the
nervous system that controls involuntary body
processes (autonomic nervous system) would
react to such an imbalance by stimulating the
individual to breathe more deeply or wake up. This
nervous system reaction is impaired in people with
CCHS. They must be supported with a machine to
help them breathe (mechanical ventilation) or a
device that stimulates a normal breathing pattern
(diaphragm pacemaker). Some affected
individuals need this support 24 hours a day, while
others need it only at night. Symptoms of CCHS
usually become apparent shortly after birth when
affected infants hypoventilate upon falling asleep.
In these infants, a lack of oxygen in the blood
often causes a bluish appearance of the skin or
lips (cyanosis). In some milder cases, CCHS may
not become apparent until later in life. In addition
to the breathing problem, people with CCHS may
have difficulty regulating their heart rate and blood
pressure, for example, in response to exercise or
changes in body position. They also have
decreased perception of pain, low body
temperature, and occasional episodes of heavy
sweating. People with CCHS may have additional
problems affecting the nervous system. About 20
percent of people with CCHS have abnormalities
in the nerves that control the digestive tract
(Hirschsprung disease), resulting in severe
constipation, intestinal blockage, and enlargement
of the colon. (Some researchers refer to the
combination of CCHS and Hirschsprung disease
as Haddad syndrome.) Some affected individuals
develop learning difficulties or other neurological
problems. People with CCHS are also at

increased risk of developing certain tumors of the
nervous system called neuroblastomas,
ganglioneuromas, and ganglioneuroblastomas.
Additionally, individuals with CCHS usually have
eye abnormalities, including a decreased
response of the pupils to light. People with CCHS,
especially children, may have a characteristic
appearance with a short, wide, somewhat
flattened face often described as "boxshaped.&
quot; In CCHS, life expectancy and the
extent of any intellectual disabilities depend on the
severity of the disorder, timing of the diagnosis,
and the success of treatment.

Review date: 29 March 2024