title: Haddad syndrome: a case study.
abstract: Hirschsprung's disease (HD), also known as congenital aganglionic megacolon, is a relatively common cause of congenital obstruction of the colon. Congenital central hypoventilation syndrome (CCHS), also known as Ondine's curse, is a rare condition involving failed autonomic respiration in the absence of cardiorespiratory disease resulting in inadequate alveolar ventilation. Both conditions typically present in the newborn period and belong to a group of disorders referred to as neurocristopathies. HD and CCHS most commonly exist as discrete entities, but the coexistence of them is now called Haddad syndrome. Although few documented cases of Haddad syndrome exist in the literature, the association of CCHS and HD suggests a common etiology involving neural crest development.
authors.affiliation: St Joseph's Candler Medical Group, Pembroke, Georgia, USA.
authors.forename: Lisa
authors.initials: L
authors.lastname: Shuman
authors.forename: Diane
authors.initials: D
authors.lastname: Youmans
mesh_terms: D000293:Adolescent; D001706:Biopsy; D003125:Colostomy; D003937:Diagnosis, Differential; D005260:Female; D018662:Fundoplication; D005774:Gastrostomy; D006627:Hirschsprung Disease / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn; D015931:Intensive Care, Neonatal / Q000379:methods*; D017283:Neonatal Nursing / Q000379:methods*; D011175:Positive-Pressure Respiration; D011247:Pregnancy; D035583:Rare Diseases; D020182:Sleep Apnea, Central / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D013577:Syndrome; D014139:Tracheostomy