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Holoprosencephaly 8(HPE8)

MedGen UID:
322873
Concept ID:
C1836254
Disease or Syndrome
Synonym: HPE8
 
Monarch Initiative: MONDO:0012267
OMIM®: 609408

Definition

A holoprosencephaly that has material basis in variation in the chromosome region 14q13. [from MONDO]

Professional guidelines

PubMed

Carrasco CR, Stierman ED, Harnsberger HR, Lee TG
J Ultrasound Med 1985 Apr;4(4):163-8. doi: 10.7863/jum.1985.4.4.163. PMID: 3886921

Recent clinical studies

Etiology

Hu Y, Sun L, Feng L, Wang J, Zhu Y, Wu Q
BMC Pregnancy Childbirth 2023 May 3;23(1):312. doi: 10.1186/s12884-023-05644-z. PMID: 37138220Free PMC Article
Syngelaki A, Cimpoca B, Litwinska E, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 Apr;55(4):474-481. Epub 2020 Mar 6 doi: 10.1002/uog.21938. PMID: 31788879
Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844. PMID: 31408229
Raam MS, Solomon BD, Muenke M
Indian Pediatr 2011 Jun;48(6):457-66. doi: 10.1007/s13312-011-0078-x. PMID: 21743112Free PMC Article
Orioli IM, Castilla EE
Am J Med Genet C Semin Med Genet 2010 Feb 15;154C(1):13-21. doi: 10.1002/ajmg.c.30233. PMID: 20104599

Diagnosis

Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844. PMID: 31408229
Yamasaki M, Kanemura Y
Neurol Med Chir (Tokyo) 2015;55(8):640-6. Epub 2015 Jul 31 doi: 10.2176/nmc.ra.2015-0075. PMID: 26227058Free PMC Article
Raam MS, Solomon BD, Muenke M
Indian Pediatr 2011 Jun;48(6):457-66. doi: 10.1007/s13312-011-0078-x. PMID: 21743112Free PMC Article
Cohen MM Jr
Am J Med Genet C Semin Med Genet 2010 Feb 15;154C(1):8-12. doi: 10.1002/ajmg.c.30252. PMID: 20082455
Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V
Orphanet J Rare Dis 2007 Feb 2;2:8. doi: 10.1186/1750-1172-2-8. PMID: 17274816Free PMC Article

Therapy

Shannon P
Clin Neuropathol 2020 Nov/Dec;39(6):288-299. doi: 10.5414/NP301266. PMID: 32589127
Addissie YA, Kruszka P, Troia A, Wong ZC, Everson JL, Kozel BA, Lipinski RJ, Malecki KMC, Muenke M
Environ Health 2020 Jun 8;19(1):65. doi: 10.1186/s12940-020-00611-z. PMID: 32513280Free PMC Article
Lee W, Bae JS
Blood Coagul Fibrinolysis 2015 Sep;26(6):628-34. doi: 10.1097/MBC.0000000000000320. PMID: 26126169
Devambez M, Delattre A, Fayoux P
Cleft Palate Craniofac J 2009 May;46(3):262-7. Epub 2008 Apr 11 doi: 10.1597/07-182.1. PMID: 19642747
Castilla EE, Mastroiacovo P, López-Camelo JS, Saldarriaga W, Isaza C, Orioli IM
Am J Med Genet A 2008 Oct 15;146A(20):2626-36. doi: 10.1002/ajmg.a.32506. PMID: 18798307

Prognosis

Syngelaki A, Cimpoca B, Litwinska E, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 Apr;55(4):474-481. Epub 2020 Mar 6 doi: 10.1002/uog.21938. PMID: 31788879
Narayanakar RP, Gangaiah DM, Althaf S, Dev K, Kurpad V, Gurawalia J
Indian J Cancer 2015 Jul-Sep;52(3):365-8. doi: 10.4103/0019-509X.176698. PMID: 26905140
Raam MS, Solomon BD, Muenke M
Indian Pediatr 2011 Jun;48(6):457-66. doi: 10.1007/s13312-011-0078-x. PMID: 21743112Free PMC Article
Ko JM, Kim SH
Pediatr Neurol 2010 Oct;43(4):245-52. doi: 10.1016/j.pediatrneurol.2010.05.001. PMID: 20837302
Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V
Orphanet J Rare Dis 2007 Feb 2;2:8. doi: 10.1186/1750-1172-2-8. PMID: 17274816Free PMC Article

Clinical prediction guides

Addissie YA, Kruszka P, Troia A, Wong ZC, Everson JL, Kozel BA, Lipinski RJ, Malecki KMC, Muenke M
Environ Health 2020 Jun 8;19(1):65. doi: 10.1186/s12940-020-00611-z. PMID: 32513280Free PMC Article
Tekendo-Ngongang C, Owosela B, Muenke M, Kruszka P
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):154-158. Epub 2020 Feb 5 doi: 10.1002/ajmg.c.31770. PMID: 32022405
Syngelaki A, Cimpoca B, Litwinska E, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2020 Apr;55(4):474-481. Epub 2020 Mar 6 doi: 10.1002/uog.21938. PMID: 31788879
Orioli IM, Castilla EE
Am J Med Genet C Semin Med Genet 2010 Feb 15;154C(1):13-21. doi: 10.1002/ajmg.c.30233. PMID: 20104599
Dubourg C, Bendavid C, Pasquier L, Henry C, Odent S, David V
Orphanet J Rare Dis 2007 Feb 2;2:8. doi: 10.1186/1750-1172-2-8. PMID: 17274816Free PMC Article

Recent systematic reviews

Lustosa-Mendes E, Dos Santos AP, Viguetti-Campos NL, Vieira TP, Gil-da-Silva-Lopes VL
Am J Med Genet A 2017 Jan;173(1):143-150. Epub 2016 Sep 15 doi: 10.1002/ajmg.a.37976. PMID: 27633903

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