Haddad Syndrome

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Retrieved

2021-01-23

Source

Orphanet

Trials

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Genes

PHOX2B, RET, ASCL1, EDN3, GDNF, CYP11B1, CYP11B2

Drugs

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Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms).

Epidemiology

Birth incidence of Ondine syndrome is 1 in 200,000 live-births and Hirschsprung disease occurs concurrently in 16% of cases.

Clinical description

Intestinal aganglionosis is more extensive, and the gender ratio is 1:1, unlike in classical Hirschsprung disease.

Etiology

Mutations in the PHOX2B gene are found in a significant number of patients with Haddad syndrome.