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Anencephaly 2(ANPH2)

MedGen UID:
1794155
Concept ID:
C5561945
Congenital Abnormality
Synonyms: ANENCEPHALY 2; ANPH2
 
Gene (location): NUAK2 (1q32.1)
 
Monarch Initiative: MONDO:0030338
OMIM®: 619452

Definition

Anencephaly-2 (ANPH2) is a severe neural tube defect caused by failure of neural tube closure anteriorly. Features in addition to anencephaly may include frontonasal dysplasia with midline cleft of the upper lip and alveolar ridge, bifid nose, and clinical anophthalmia. For a discussion of genetic heterogeneity of anencephaly, see ANPH1 (206500). [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 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.\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.
Bifid nose
MedGen UID:
66379
Concept ID:
C0221363
Congenital Abnormality
Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip.
Short palpebral fissure
MedGen UID:
98067
Concept ID:
C0423112
Finding
Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.
Median cleft upper lip
MedGen UID:
342454
Concept ID:
C1850256
Congenital Abnormality
A type of cleft lip presenting as a midline (median) gap in the upper lip.
Median cleft palate
MedGen UID:
340670
Concept ID:
C1850968
Congenital Abnormality
Cleft palate of the midline of the palate.
Cleft maxillary alveolar ridge
MedGen UID:
488995
Concept ID:
C2919907
Congenital Abnormality
A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine.
Anophthalmia
MedGen UID:
314
Concept ID:
C0003119
Congenital Abnormality
Absence of the globe or eyeball.

Professional guidelines

PubMed

Aldridge N, Pandya P, Rankin J, Miller N, Broughan J, Permalloo N, McHugh A, Stevens S
BJOG 2023 Jan;130(1):51-58. Epub 2022 Sep 12 doi: 10.1111/1471-0528.17287. PMID: 36054171
Bijok J, Dąbkowska S, Kucińska-Chahwan A, Massalska D, Nowakowska B, Gawlik-Zawiślak S, Panek G, Roszkowski T
Arch Gynecol Obstet 2023 Jan;307(1):293-299. Epub 2022 May 12 doi: 10.1007/s00404-022-06584-3. PMID: 35554661
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

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
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
Holmes LB, Toufaily MH, Westgate MN
Birth Defects Res 2018 Jan;110(2):128-133. doi: 10.1002/bdr2.1082. PMID: 29377645
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

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
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

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
Ross ME, Mason CE, Finnell RH
Birth Defects Res 2017 Jan 30;109(2):120-128. doi: 10.1002/bdra.23592. PMID: 27883265Free 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

Prognosis

Madrid L, Vyas KJ, Kancherla V, Leulseged H, Suchdev PS, Bassat Q, Sow SO, El Arifeen S, Madhi SA, Onyango D, Ogbuanu I, Scott JAG, Blau D, Mandomando I, Keita AM, Gurley ES, Mahtab S, Akelo V, Sannoh S, Tilahun Y, Varo R, Onwuchekwa U, Rahman A, Adam Y, Omore R, Lako S, Xerinda E, Islam KM, Wise A, Tippet-Barr BA, Kaluma E, Ajanovic S, Kotloff KL, Hossain MZ, Mutevedzi P, Tapia MD, Rogena E, Moses F, Whitney CG, Assefa N; CHAMPS Consortium
Lancet Glob Health 2023 Jul;11(7):e1041-e1052. Epub 2023 Jun 1 doi: 10.1016/S2214-109X(23)00191-2. PMID: 37271162Free PMC Article
Edwards L, Hui L
Semin Fetal Neonatal Med 2018 Apr;23(2):102-111. Epub 2017 Dec 9 doi: 10.1016/j.siny.2017.11.005. PMID: 29233624
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
Tubbs RS, Blount JP
Pediatr Neurosurg 2004 Mar-Apr;40(2):95-6. doi: 10.1159/000078919. PMID: 15292644
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

Clinical prediction guides

Liberman RF, Heinke D, Petersen JM, Parker SE, Nestoridi E, Van Zutphen AR, Nembhard WN, Ramirez GM, Ethen MK, Tran T, Kirby RS, Getz KD, Nance AE, Yazdy MM; National Birth Defects Prevention Network
Birth Defects Res 2022 Jan 15;114(2):69-79. Epub 2021 Oct 21 doi: 10.1002/bdr2.1960. PMID: 34676681
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
Radford K, Taylor RC, Hall JG, Gick B
Birth Defects Res 2019 Jan 15;111(2):41-52. Epub 2018 Dec 10 doi: 10.1002/bdr2.1424. PMID: 30537250
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

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
Cimino AM, Boyles AL, Thayer KA, Perry MJ
Environ Health Perspect 2017 Feb;125(2):155-162. Epub 2016 Jul 6 doi: 10.1289/EHP515. PMID: 27385285Free PMC Article

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