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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
Obstet Gynecol 1976 Feb;47(2):148-51. PMID: 55990

Recent clinical studies

Etiology

Krantz DA, Hallahan TW, Carmichael JB
Clin Lab Med 2016 Jun;36(2):401-6. Epub 2016 Mar 2 doi: 10.1016/j.cll.2016.01.004. PMID: 27235920
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
Lancet 1991 Jul 20;338(8760):131-7. PMID: 1677062

Diagnosis

Obstet Gynecol 2017 Dec;130(6):e279-e290. doi: 10.1097/AOG.0000000000002412. PMID: 29189693
Krantz DA, Hallahan TW, Carmichael JB
Clin Lab Med 2016 Jun;36(2):401-6. Epub 2016 Mar 2 doi: 10.1016/j.cll.2016.01.004. PMID: 27235920
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
Nagaraj UD, Lawrence A, Vezina LG, Bulas DI, duPlessis AJ
Pediatr Radiol 2016 Jan;46(1):145-7. Epub 2015 Aug 11 doi: 10.1007/s00247-015-3440-7. PMID: 26260203
Greene ND, Copp AJ
Annu Rev Neurosci 2014;37:221-42. doi: 10.1146/annurev-neuro-062012-170354. PMID: 25032496Free PMC Article

Therapy

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
Lancet 1991 Jul 20;338(8760):131-7. PMID: 1677062
Czeizel A
Am J Med Genet 1981;10(1):25-35. doi: 10.1002/ajmg.1320100105. PMID: 7294060

Prognosis

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
McAbee GN, Chan A, Erde EL
Pediatr Neurol 2000 Jul;23(1):80-4. doi: 10.1016/s0887-8994(00)00154-5. PMID: 10963978
Nakayama K, Maeda K, Utsu M
Jpn Hosp 1993 Jul;12:73-83. PMID: 10128169
Airede KI
J Trop Pediatr 1992 Feb;38(1):27-30. doi: 10.1093/tropej/38.1.27. PMID: 1573689
COMERFORD JB
Lancet 1965 Mar 27;1(7387):679-80. doi: 10.1016/s0140-6736(65)91832-5. PMID: 14258549

Clinical prediction guides

Stallings EB, Isenburg JL, Rutkowski RE, Kirby RS, Nembhard WN, Sandidge T, Villavicencio S, Nguyen HH, McMahon DM, Nestoridi E, Pabst LJ; National Birth Defects Prevention Network
Birth Defects Res 2024 Jan;116(1):e2301. doi: 10.1002/bdr2.2301. PMID: 38277408Free 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
Lin Y, Yu J, Wu J, Wang S, Zhang T
Epigenetics Chromatin 2019 Apr 16;12(1):22. doi: 10.1186/s13072-019-0268-7. PMID: 30992047Free 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
Rodríguez JI, Palacios J, Razquin S
Am J Med Genet 1991 Apr 1;39(1):25-7. doi: 10.1002/ajmg.1320390107. PMID: 1867259

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
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
Atlaw D, Tekalegn Y, Sahiledengle B, Seyoum K, Solomon D, Gezahegn H, Tariku Z, Tekle Y, Chattu VK
BMC Pregnancy Childbirth 2021 Jun 14;21(1):426. doi: 10.1186/s12884-021-03848-9. PMID: 34126936Free PMC Article
Bhide P, Kar A
BMC Pediatr 2018 May 25;18(1):175. doi: 10.1186/s12887-018-1149-0. PMID: 29801440Free PMC Article

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