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1.

Haddad syndrome

A rare congenital disorder in which congenital central hypoventilation syndrome occurs concurrently with Hirschsprung disease. Intestinal aganglionosis is more extensive, and the gender ratio is 1:1, unlike in classical Hirschsprung disease. Mutations in the PHOX2B gene are found in a significant number of patients with Haddad syndrome. [from SNOMEDCT_US]

MedGen UID:
347052
Concept ID:
C1859049
Congenital Abnormality; Disease or Syndrome
2.

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:
220902
Concept ID:
C1275808
Disease or Syndrome

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