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Results: 5

1.

ONDINE-HIRSCHSPRUNG DISEASE

MedGen UID:
406283
Concept ID:
C1876168
Disease or Syndrome
2.

Haddad syndrome

MedGen UID:
347185
Concept ID:
C1859587
Disease or Syndrome
3.

Congenital central hypoventilation

Congenital central hypoventilation syndrome (CCHS) is a rare disorder of respiratory and autonomic regulation. It is typically characterized by a classic presentation in newborns and, rarely, a milder later-onset (LO-CCHS) presentation in toddlers, children, and adults. Classic CCHS presents in newborns as: Apparent hypoventilation with monotonous respiratory rates and shallow breathing either during sleep only or while awake as well as asleep; Autonomic nervous system dysregulation (ANSD); and In some individuals, altered development of neural crest-derived structures (i.e., Hirschsprung disease) and/or tumors of neural crest origin (neuroblastoma, ganglioneuroma, and ganglioneuroblastoma). Individuals with CCHS who have been diagnosed as newborns and ventilated conservatively and consistently throughout childhood have now reached the age of 20 to 30 years; they are highly functional and live independently. LO-CCHS manifests as nocturnal alveolar hypoventilation and mild ANSD. Individuals with LO-CCHS who were not identified until age 20 years or older have now reached the age of 30 to 55 years. [from GeneReviews]

MedGen UID:
347052
Concept ID:
C1859049
Disease or Syndrome
4.

Error occurred: cannot get document summary

ID:
329118

5.

Congenital central hypoventilation

A disorder characterized by hypoventilation and hypoxemia. It appears early in life and is not associated with cardiopulmonary or neuromuscular abnormalities. [from NCI]

MedGen UID:
220902
Concept ID:
C1275808
Disease or Syndrome

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