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Haddad syndrome(OHD)

MedGen UID:
347052
•Concept ID:
C1859049
•
Congenital Abnormality; Disease or Syndrome
Synonyms: OHD; Ondine-Hirschsprung disease
SNOMED CT: Haddad syndrome (719972004); Congenital central alveolar hypoventilation with Hirschsprung disease syndrome (719972004); Ondine Hirschsprung disease (719972004); Ondine Hirschsprung syndrome (719972004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Non-Mendelian inheritance
MedGen UID:
109109
•Concept ID:
C0600599
•
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Autosomal dominant inheritance (Orphanet)
Non-Mendelian inheritance (Orphanet)
 
Monarch Initiative: MONDO:0020493
OMIM®: 209880; 603851
Orphanet: ORPHA99803

Definition

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]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHaddad syndrome

Professional guidelines

PubMed

Guidelines for diagnosis and management of congenital central hypoventilation syndrome.
Trang H, Samuels M, Ceccherini I, Frerick M, Garcia-Teresa MA, Peters J, Schoeber J, Migdal M, Markstrom A, Ottonello G, Piumelli R, Estevao MH, Senecic-Cala I, Gnidovec-Strazisar B, Pfleger A, Porto-Abal R, Katz-Salamon M
Orphanet J Rare Dis 2020 Sep 21;15(1):252. doi: 10.1186/s13023-020-01460-2. PMID: 32958024Free PMC Article
Neurodevelopmental outcome and respiratory management of congenital central hypoventilation syndrome: a retrospective study.
Ogata T, Muramatsu K, Miyana K, Ozawa H, Iwasaki M, Arakawa H
BMC Pediatr 2020 Jul 13;20(1):342. doi: 10.1186/s12887-020-02239-x. PMID: 32660452Free PMC Article
Congenital central hypoventilation syndrome: diagnosis and management.
Maloney MA, Kun SS, Keens TG, Perez IA
Expert Rev Respir Med 2018 Apr;12(4):283-292. Epub 2018 Feb 28 doi: 10.1080/17476348.2018.1445970. PMID: 29486608

Recent clinical studies

Etiology

Clinical features of children with Haddad syndrome: A single-center experience.
Woo HY, Oh C, Han JW, Kim HY, Jung SE
J Pediatr Surg 2020 Mar;55(3):387-392. Epub 2019 Feb 23 doi: 10.1016/j.jpedsurg.2019.01.066. PMID: 30850150
A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease.
Jones KL, Pivnick EK, Hines-Dowell S, Weese-Mayer DE, Berry-Kravis EM, Santiago T, Nnorom C, Pourcyrous M
Pediatrics 2012 Nov;130(5):e1382-4. Epub 2012 Oct 8 doi: 10.1542/peds.2011-3844. PMID: 23045564
Haddad syndrome presenting with abdominal distension associated with long-segment aganglionosis.
Chung WD, Lim GY, Kim SY, Chung JH, Kim SJ
Clin Imaging 2012 Mar-Apr;36(2):149-52. doi: 10.1016/j.clinimag.2011.08.014. PMID: 22370137
Haddad syndrome: a case study.
Shuman L, Youmans D
Neonatal Netw 2005 Jul-Aug;24(4):41-4. doi: 10.1891/0730-0832.24.4.41. PMID: 16117243
Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung's disease.
Shahar E, Shinawi M
Pediatr Neurol 2003 May;28(5):385-91. doi: 10.1016/s0887-8994(03)00010-9. PMID: 12878302

Diagnosis

Clinical features of children with Haddad syndrome: A single-center experience.
Woo HY, Oh C, Han JW, Kim HY, Jung SE
J Pediatr Surg 2020 Mar;55(3):387-392. Epub 2019 Feb 23 doi: 10.1016/j.jpedsurg.2019.01.066. PMID: 30850150
Neonatal Congenital Central Hypoventilation Syndrome: Why We Should not Sleep on it. Literature Review of Forty-two Neonatal Onset Cases.
Bardanzellu F, Pintus MC, Fanos V, Marcialis MA
Curr Pediatr Rev 2019;15(3):139-153. doi: 10.2174/1573396315666190621103954. PMID: 31223092
Congenital hypoventilation syndrome and Hirschsprung's disease - Haddad syndrome: A neonatal case presentation.
Jaiyeola P, El-Metwally D, Viscardi R, Greene C, Woo H
J Neonatal Perinatal Med 2015;8(2):165-8. doi: 10.3233/NPM-15814058. PMID: 26410442
Haddad syndrome.
Ławicka M, Sawicka J, Bąkowska G
Anaesthesiol Intensive Ther 2013 Jan-Mar;45(1):30-2. doi: 10.5603/AIT.2013.0006. PMID: 23572305
Haddad syndrome: a case study.
Shuman L, Youmans D
Neonatal Netw 2005 Jul-Aug;24(4):41-4. doi: 10.1891/0730-0832.24.4.41. PMID: 16117243

Therapy

Myectomy-myotomy for long segment Hirschsprung's disease in a patient with Haddad syndrome.
Otabor IA, Balint JP, Besner GE
J Pediatr Surg 2009 Mar;44(3):620-2. doi: 10.1016/j.jpedsurg.2008.10.115. PMID: 19302869

Prognosis

Clinical features of children with Haddad syndrome: A single-center experience.
Woo HY, Oh C, Han JW, Kim HY, Jung SE
J Pediatr Surg 2020 Mar;55(3):387-392. Epub 2019 Feb 23 doi: 10.1016/j.jpedsurg.2019.01.066. PMID: 30850150
Neonatal Congenital Central Hypoventilation Syndrome: Why We Should not Sleep on it. Literature Review of Forty-two Neonatal Onset Cases.
Bardanzellu F, Pintus MC, Fanos V, Marcialis MA
Curr Pediatr Rev 2019;15(3):139-153. doi: 10.2174/1573396315666190621103954. PMID: 31223092
Congenital hypoventilation syndrome and Hirschsprung's disease - Haddad syndrome: A neonatal case presentation.
Jaiyeola P, El-Metwally D, Viscardi R, Greene C, Woo H
J Neonatal Perinatal Med 2015;8(2):165-8. doi: 10.3233/NPM-15814058. PMID: 26410442
Haddad syndrome presenting with abdominal distension associated with long-segment aganglionosis.
Chung WD, Lim GY, Kim SY, Chung JH, Kim SJ
Clin Imaging 2012 Mar-Apr;36(2):149-52. doi: 10.1016/j.clinimag.2011.08.014. PMID: 22370137
Successful redo pull-through for Hirschsprung's disease in a Haddad syndrome patient.
Lee JT, Liu C, Tsai HL, Chin T, Wei CF
J Chin Med Assoc 2010 Aug;73(8):438-40. doi: 10.1016/S1726-4901(10)70094-0. PMID: 20728857

Clinical prediction guides

Clinical features of children with Haddad syndrome: A single-center experience.
Woo HY, Oh C, Han JW, Kim HY, Jung SE
J Pediatr Surg 2020 Mar;55(3):387-392. Epub 2019 Feb 23 doi: 10.1016/j.jpedsurg.2019.01.066. PMID: 30850150
Congenital central hypoventilation syndrome with hirschsprung's disease due to PHOX2B gene mutation in a Turkish infant.
Kaymakçi A, Narter F, Yazar AS, Yilmaz MS
Turk J Pediatr 2012 Sep-Oct;54(5):519-22. PMID: 23427517
Ondine-Hirschsprung syndrome (Haddad syndrome). Further delineation in two cases and review of the literature.
Verloes A, Elmer C, Lacombe D, Heinrichs C, Rebuffat E, Demarquez JL, Moncla A, Adam E
Eur J Pediatr 1993 Jan;152(1):75-7. doi: 10.1007/BF02072522. PMID: 8444212

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