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Anencephaly 1(ANPH1)

MedGen UID:
1794138
Concept ID:
C5561928
Congenital Abnormality
Synonyms: ANENCEPHALY 1; ANPH1
Modes of inheritance:
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.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Gene (location): TRIM36 (5q22.3)
 
Monarch Initiative: MONDO:0008791
OMIM®: 206500
Orphanet: ORPHA1048

Definition

Anencephaly is characterized by the absence of cranial vault and brain tissues in the fetus. It is considered an extreme form of neural tube defect (182940) (summary by Singh et al., 2017). Genetic Heterogeneity of Anencephaly See also anencephaly-2 (ANPH2; 619452), caused by mutation in the NUAK12 gene (608131) on chromosome 1q32. [from OMIM]

Clinical features

From HPO
Anencephaly
MedGen UID:
8068
Concept ID:
C0002902
Congenital Abnormality
Anencephaly is a condition that prevents the normal development of the brain and the bones of the skull. This condition results when a structure called the neural tube fails to close during the first few weeks of embryonic development. The neural tube is a layer of cells that ultimately develops into the brain and spinal cord. Because anencephaly is caused by abnormalities of the neural tube, it is classified as a neural tube defect.\n\nBecause these nervous system abnormalities are so severe, almost all babies with anencephaly die before birth or within a few hours or days after birth.\n\nBecause the neural tube fails to close properly, the developing brain and spinal cord are exposed to the amniotic fluid that surrounds the fetus in the womb. This exposure causes the nervous system tissue to break down (degenerate). As a result, people with anencephaly are missing large parts of the brain called the cerebrum and cerebellum. These brain regions are necessary for thinking, hearing, vision, emotion, and coordinating movement. The bones of the skull are also missing or incompletely formed.
Spina bifida
MedGen UID:
38283
Concept ID:
C0080178
Congenital Abnormality
Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAnencephaly 1

Professional guidelines

PubMed

Laurence KM
Lancet 1980 Feb 2;1(8162):249-50. doi: 10.1016/s0140-6736(80)90730-8. PMID: 6101691
Weiss RR, Macri JN, Elligers K, Princler GL, McIntire R, Waldman TA
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Recent clinical studies

Etiology

Munteanu O, Cîrstoiu MM, Filipoiu FM, Neamţu MN, Stavarache I, Georgescu TA, Bratu OG, Iorgulescu G, Bohîlţea RE
Rom J Morphol Embryol 2020 Apr-Jun;61(2):335-343. doi: 10.47162/RJME.61.2.03. PMID: 33544785Free PMC Article
Anderson KN, Lind JN, Simeone RM, Bobo WV, Mitchell AA, Riehle-Colarusso T, Polen KN, Reefhuis J
JAMA Psychiatry 2020 Dec 1;77(12):1246-1255. doi: 10.1001/jamapsychiatry.2020.2453. PMID: 32777011Free PMC Article
Chitayat D, Matsui D, Amitai Y, Kennedy D, Vohra S, Rieder M, Koren G
J Clin Pharmacol 2016 Feb;56(2):170-5. Epub 2015 Nov 5 doi: 10.1002/jcph.616. PMID: 26272218Free PMC Article
Greene ND, Copp AJ
Annu Rev Neurosci 2014;37:221-42. doi: 10.1146/annurev-neuro-062012-170354. PMID: 25032496Free PMC Article
Copp AJ, Stanier P, Greene ND
Lancet Neurol 2013 Aug;12(8):799-810. Epub 2013 Jun 19 doi: 10.1016/S1474-4422(13)70110-8. PMID: 23790957Free PMC Article

Diagnosis

Munteanu O, Cîrstoiu MM, Filipoiu FM, Neamţu MN, Stavarache I, Georgescu TA, Bratu OG, Iorgulescu G, Bohîlţea RE
Rom J Morphol Embryol 2020 Apr-Jun;61(2):335-343. doi: 10.47162/RJME.61.2.03. PMID: 33544785Free PMC Article
Baldacci S, Gorini F, Santoro M, Pierini A, Minichilli F, Bianchi F
Epidemiol Prev 2018 May-Aug;42(3-4 Suppl 1):1-34. doi: 10.19191/EP18.3-4.S1.P001.057. PMID: 30066535
Kousa YA, du Plessis AJ, Vezina G
Am J Med Genet C Semin Med Genet 2018 Jun;178(2):206-213. Epub 2018 May 17 doi: 10.1002/ajmg.c.31618. PMID: 29770996
Chitayat D, Matsui D, Amitai Y, Kennedy D, Vohra S, Rieder M, Koren G
J Clin Pharmacol 2016 Feb;56(2):170-5. Epub 2015 Nov 5 doi: 10.1002/jcph.616. PMID: 26272218Free PMC Article
Greene ND, Copp AJ
Annu Rev Neurosci 2014;37:221-42. doi: 10.1146/annurev-neuro-062012-170354. PMID: 25032496Free PMC Article

Therapy

Anderson KN, Lind JN, Simeone RM, Bobo WV, Mitchell AA, Riehle-Colarusso T, Polen KN, Reefhuis J
JAMA Psychiatry 2020 Dec 1;77(12):1246-1255. doi: 10.1001/jamapsychiatry.2020.2453. PMID: 32777011Free PMC Article
Baldacci S, Gorini F, Santoro M, Pierini A, Minichilli F, Bianchi F
Epidemiol Prev 2018 May-Aug;42(3-4 Suppl 1):1-34. doi: 10.19191/EP18.3-4.S1.P001.057. PMID: 30066535
Chitayat D, Matsui D, Amitai Y, Kennedy D, Vohra S, Rieder M, Koren G
J Clin Pharmacol 2016 Feb;56(2):170-5. Epub 2015 Nov 5 doi: 10.1002/jcph.616. PMID: 26272218Free PMC Article
Greene ND, Copp AJ
Annu Rev Neurosci 2014;37:221-42. doi: 10.1146/annurev-neuro-062012-170354. PMID: 25032496Free PMC Article
Copp AJ, Stanier P, Greene ND
Lancet Neurol 2013 Aug;12(8):799-810. Epub 2013 Jun 19 doi: 10.1016/S1474-4422(13)70110-8. PMID: 23790957Free PMC Article

Prognosis

Koenigstein F, Boekstegers F, Wilson JF, Fuentes-Guajardo M, Gonzalez-Jose R, Bedoya G, Bortolini MC, Acuña-Alonzo V, Gallo C, Ruiz Linares A, Rothhammer F, Lorenzo Bermejo J
Hum Mol Genet 2022 Mar 21;31(6):975-984. doi: 10.1093/hmg/ddab302. PMID: 34673976Free PMC Article
Chitayat D, Matsui D, Amitai Y, Kennedy D, Vohra S, Rieder M, Koren G
J Clin Pharmacol 2016 Feb;56(2):170-5. Epub 2015 Nov 5 doi: 10.1002/jcph.616. PMID: 26272218Free PMC Article
Canfield MA, Marengo L, Ramadhani TA, Suarez L, Brender JD, Scheuerle A
Paediatr Perinat Epidemiol 2009 Jan;23(1):41-50. doi: 10.1111/j.1365-3016.2008.00975.x. PMID: 19228313
Bouchard S, Di Lorenzo M, Youssef S, Simard P, Lapierre JG
J Pediatr Surg 2000 May;35(5):796-800. doi: 10.1053/jpsu.2000.6086. PMID: 10813353
Duff P
Obstet Gynecol 1981 Jan;57(1):105-12. PMID: 7005774

Clinical prediction guides

Xie X, Li C, Yu J, Chang S, Cheng X, Wang F, Bao Y, Zhang T, Wang S
Brain 2023 Aug 1;146(8):3455-3469. doi: 10.1093/brain/awad084. PMID: 36928982
Anderson KN, Lind JN, Simeone RM, Bobo WV, Mitchell AA, Riehle-Colarusso T, Polen KN, Reefhuis J
JAMA Psychiatry 2020 Dec 1;77(12):1246-1255. doi: 10.1001/jamapsychiatry.2020.2453. PMID: 32777011Free PMC Article
Greene ND, Leung KY, Copp AJ
Birth Defects Res 2017 Jan 30;109(2):68-80. doi: 10.1002/bdra.23533. PMID: 27324558Free PMC Article
Chitayat D, Matsui D, Amitai Y, Kennedy D, Vohra S, Rieder M, Koren G
J Clin Pharmacol 2016 Feb;56(2):170-5. Epub 2015 Nov 5 doi: 10.1002/jcph.616. PMID: 26272218Free PMC Article
Canfield MA, Marengo L, Ramadhani TA, Suarez L, Brender JD, Scheuerle A
Paediatr Perinat Epidemiol 2009 Jan;23(1):41-50. doi: 10.1111/j.1365-3016.2008.00975.x. PMID: 19228313

Recent systematic reviews

Tesfay N, Hailu G, Habtetsion M, Woldeyohannes F
BMJ Open 2023 Nov 7;13(11):e077685. doi: 10.1136/bmjopen-2023-077685. PMID: 37940152Free PMC Article
Salari N, Fatahi B, Fatahian R, Mohammadi P, Rahmani A, Darvishi N, Keivan M, Shohaimi S, Mohammadi M
Reprod Health 2022 Oct 17;19(1):201. doi: 10.1186/s12978-022-01509-4. PMID: 36253858Free PMC Article
Yan K, Qie Z, Vásquez E, Guo F, Zhang L, Lin Z, Qin H
Nutr Res 2022 Jun;102:13-22. Epub 2022 Mar 7 doi: 10.1016/j.nutres.2022.02.009. PMID: 35366455
Oumer M, Kibret AA, Girma A, Tazebew A, Silamsaw M
Sci Rep 2021 Dec 9;11(1):23707. doi: 10.1038/s41598-021-02966-w. PMID: 34887455Free PMC Article
Bhide P, Sagoo GS, Moorthie S, Burton H, Kar A
Birth Defects Res A Clin Mol Teratol 2013 Jul;97(7):437-43. doi: 10.1002/bdra.23153. PMID: 23873811

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