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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

Transitional care and clinical management of adolescents, young adults, and suspected new adult patients with congenital central hypoventilation syndrome.
Slattery SM, Perez IA, Ceccherini I, Chen ML, Kurek KC, Yap KL, Keens TG, Khaytin I, Ballard HA, Sokol EA, Mittal A, Rand CM, Weese-Mayer DE
Clin Auton Res 2023 Jun;33(3):231-249. Epub 2022 Nov 20 doi: 10.1007/s10286-022-00908-8. PMID: 36403185
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
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
Haddad syndrome novel association with BRAF mutation.
Al Dakhoul S
J Neonatal Perinatal Med 2017;10(4):455-457. doi: 10.3233/NPM-16170. PMID: 29286936
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
Congenital central hypoventilation syndrome (CCHS) with Hirschsprung disease (Haddad syndrome): an unusual cause of reduced baseline variability of the fetal heart rate.
Majumdar S, Wood P
J Obstet Gynaecol 2009 Feb;29(2):152-3. doi: 10.1080/01443610802617752. PMID: 19274556

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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