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Iniencephaly

MedGen UID:
57756
Concept ID:
C0152234
Congenital Abnormality
Synonym: Iniencephalies
SNOMED CT: Iniencephaly (2438005); Iniencephalus (2438005)
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.
 
HPO: HP:0034205
Monarch Initiative: MONDO:0018968
Orphanet: ORPHA63259

Definition

Iniencephaly is a rare neural tube defect involving dysmorphic spine and abnormal fusion of the portion of the occipital skull with the back. It results in extreme fixed head retroflexion. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIniencephaly
Follow this link to review classifications for Iniencephaly in Orphanet.

Professional guidelines

PubMed

Zash R, Holmes L, Diseko M, Jacobson DL, Brummel S, Mayondi G, Isaacson A, Davey S, Mabuta J, Mmalane M, Gaolathe T, Essex M, Lockman S, Makhema J, Shapiro RL
N Engl J Med 2019 Aug 29;381(9):827-840. Epub 2019 Jul 22 doi: 10.1056/NEJMoa1905230. PMID: 31329379Free PMC Article
Chen CP
Taiwan J Obstet Gynecol 2007 Sep;46(3):199-208. doi: 10.1016/S1028-4559(08)60021-2. PMID: 17962097
Mórocz I, Szeifert GT, Molnár P, Tóth Z, Csécsei K, Papp Z
Clin Genet 1986 Aug;30(2):81-6. doi: 10.1111/j.1399-0004.1986.tb00574.x. PMID: 3530565

Recent clinical studies

Etiology

Liao Y, Wen H, Luo G, Ouyang S, Bi J, Yuan Y, Luo D, Huang Y, Zhang K, Tian X, Li S
J Ultrasound Med 2021 Feb;40(2):237-247. Epub 2020 Jul 21 doi: 10.1002/jum.15392. PMID: 32691861
Holmes LB, Toufaily MH, Westgate MN
Birth Defects Res 2018 Jan;110(2):128-133. doi: 10.1002/bdr2.1082. PMID: 29377645
Joó JG
Expert Rev Mol Diagn 2009 Apr;9(3):281-93. doi: 10.1586/erm.09.4. PMID: 19379086
Erdinçler P, Kaynar MY, Canbaz B, Koçer N, Kuday C, Ciplak N
J Neurosurg 1998 Aug;89(2):317-20. doi: 10.3171/jns.1998.89.2.0317. PMID: 9688130
Cohen MM Jr, Lemire RJ
Teratology 1982 Apr;25(2):161-72. doi: 10.1002/tera.1420250206. PMID: 7101196

Diagnosis

Liao Y, Wen H, Luo G, Ouyang S, Bi J, Yuan Y, Luo D, Huang Y, Zhang K, Tian X, Li S
J Ultrasound Med 2021 Feb;40(2):237-247. Epub 2020 Jul 21 doi: 10.1002/jum.15392. PMID: 32691861
Khatri D, Gosal JS, Joseph J, Das KK, Bhaisora KS, Kumar R
World Neurosurg 2019 Sep;129:105-109. Epub 2019 May 29 doi: 10.1016/j.wneu.2019.05.202. PMID: 31150861
Sepulveda W, Wong AE, Fauchon DE
Prenat Diagn 2011 Jan;31(1):107-14. Epub 2010 Aug 23 doi: 10.1002/pd.2608. PMID: 20734349
Chen CP
Taiwan J Obstet Gynecol 2007 Sep;46(3):199-208. doi: 10.1016/S1028-4559(08)60021-2. PMID: 17962097
Csabay L, Szabó I, Papp C, Tóth-Pál E, Papp Z
Ann N Y Acad Sci 1998 Jun 18;847:21-45. doi: 10.1111/j.1749-6632.1998.tb08924.x. PMID: 9668696

Therapy

Zash R, Holmes L, Diseko M, Jacobson DL, Brummel S, Mayondi G, Isaacson A, Davey S, Mabuta J, Mmalane M, Gaolathe T, Essex M, Lockman S, Makhema J, Shapiro RL
N Engl J Med 2019 Aug 29;381(9):827-840. Epub 2019 Jul 22 doi: 10.1056/NEJMoa1905230. PMID: 31329379Free 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
Agostini L, Massimi L, Tamburrini G, Frassanito P, Bianchi F
Childs Nerv Syst 2023 Aug;39(8):2027-2035. Epub 2023 May 26 doi: 10.1007/s00381-023-06003-1. PMID: 37233770
Khatri D, Gosal JS, Joseph J, Das KK, Bhaisora KS, Kumar R
World Neurosurg 2019 Sep;129:105-109. Epub 2019 May 29 doi: 10.1016/j.wneu.2019.05.202. PMID: 31150861
Prada CE, Sellars EA, Spaeth CG, Kline-Fath BM, Crombleholme TM, Hopkin RJ
Prenat Diagn 2011 Dec;31(12):1198-202. Epub 2011 Oct 26 doi: 10.1002/pd.2898. PMID: 22031186
Erdinçler P, Kaynar MY, Canbaz B, Koçer N, Kuday C, Ciplak N
J Neurosurg 1998 Aug;89(2):317-20. doi: 10.3171/jns.1998.89.2.0317. PMID: 9688130

Clinical prediction guides

Singh S, Mane S, Jain S, Bajaj A
Childs Nerv Syst 2024 Jan;40(1):163-170. Epub 2023 Jul 15 doi: 10.1007/s00381-023-06078-w. PMID: 37452861
Namale-Matovu J, Kusolo R, Serunjogi R, Barlow-Mosha L, Mumpe-Mwanja D, Niombi N, Kalibbala D, Williamson D, Valencia D, Moore CA, Mwambi K, Nelson LJ, Namukanja-Mayambala PM, Williams JL, Mai CT, Qi YP, Musoke P
BMC Med Educ 2023 Oct 13;23(1):766. doi: 10.1186/s12909-023-04760-w. PMID: 37833686Free PMC Article
Hartge DR, Gembicki M, Rody A, Weichert J
J Ultrasound Med 2018 Dec;37(12):2841-2847. Epub 2018 Apr 17 doi: 10.1002/jum.14642. PMID: 29665042
Shrot S, Johnson CT, Golden WC, Baschat AA, Bullard JE, Tekes A, Poretti A, Dunn E, Huisman TAGM
J Neuroimaging 2018 May;28(3):278-282. Epub 2018 Feb 5 doi: 10.1111/jon.12499. PMID: 29405479
Mórocz I, Szeifert GT, Molnár P, Tóth Z, Csécsei K, Papp Z
Clin Genet 1986 Aug;30(2):81-6. doi: 10.1111/j.1399-0004.1986.tb00574.x. PMID: 3530565

Supplemental Content

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