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Syntelencephaly

MedGen UID:
1708682
•Concept ID:
C5396362
•
Congenital Abnormality
Synonym: Holoprosencephaly (middle interhemispheric variant)
SNOMED CT: Syntelencephaly (866053004); Middle interhemispheric variant of holoprosencephaly (866053004)
 
HPO: HP:0025670

Definition

Syntelencephaly is a rare malformation that consists of an abnormal midline connection of the cerebral hemispheres in the posterior frontal and parietal regions, with interhemispheric separation of the basal forebrain, anterior frontal lobes, and occipital regions. [from HPO]

Conditions with this feature

Holoprosencephaly 5
MedGen UID:
355304
•Concept ID:
C1864827
•
Disease or Syndrome
Holoprosencephaly associated with mutations in the ZIC2 gene.
See: Condition Record
Holoprosencephaly 5

Professional guidelines

PubMed

Vertical course of fetal anterior cerebral artery as clue to prenatal diagnosis of syntelencephaly.
Delmas J, Cherier L, Sauvestre F, Chateil JF
Ultrasound Obstet Gynecol 2022 Dec;60(6):813-814. Epub 2022 Nov 3 doi: 10.1002/uog.26028. PMID: 35809245
Prenatal diagnosis of middle interhemispheric variant of holoprosencephaly: review of literature and prenatal case series.
Tavano I, De Keersmaecker B, Aertsen M, De Catte L
J Matern Fetal Neonatal Med 2022 Dec;35(25):4976-4984. Epub 2021 Jan 17 doi: 10.1080/14767058.2021.1873942. PMID: 33455493
Distortion of the anterior part of the interhemispheric fissure: significance and implications for prenatal diagnosis.
Vinurel N, Van Nieuwenhuyse A, Cagneaux M, Garel C, Quarello E, Brasseur M, Picone O, Ferry M, Gaucherand P, des Portes V, Guibaud L
Ultrasound Obstet Gynecol 2014 Mar;43(3):346-52. Epub 2014 Jan 2 doi: 10.1002/uog.12498. PMID: 23640781

Recent clinical studies

Etiology

Sinus pericranii associated with syntelencephaly: a case report.
Fujino S, Enokizono M, Ihara S, Kono T, Miyama S
BMC Neurol 2022 Aug 25;22(1):316. doi: 10.1186/s12883-022-02764-5. PMID: 36008788Free PMC Article
Disorders of Ventral Induction/Spectrum of Holoprosencephaly.
Calloni SF, Caschera L, Triulzi FM
Neuroimaging Clin N Am 2019 Aug;29(3):411-421. Epub 2019 Apr 13 doi: 10.1016/j.nic.2019.03.003. PMID: 31256862
Holoprosencephaly: a survey of the entity, with embryology and fetal imaging.
Winter TC, Kennedy AM, Woodward PJ
Radiographics 2015 Jan-Feb;35(1):275-90. doi: 10.1148/rg.351140040. PMID: 25590404
Recent studies on neural tube defects in embryos of diabetic pregnancy: an overview.
Dheen ST, Tay SS, Boran J, Ting LW, Kumar SD, Fu J, Ling EA
Curr Med Chem 2009;16(18):2345-54. doi: 10.2174/092986709788453069. PMID: 19519395
Holoprosencephaly: clinical, anatomic, and molecular dimensions.
Cohen MM Jr
Birth Defects Res A Clin Mol Teratol 2006 Sep;76(9):658-73. doi: 10.1002/bdra.20295. PMID: 17001700

Diagnosis

Disorders of Ventral Induction/Spectrum of Holoprosencephaly.
Calloni SF, Caschera L, Triulzi FM
Neuroimaging Clin N Am 2019 Aug;29(3):411-421. Epub 2019 Apr 13 doi: 10.1016/j.nic.2019.03.003. PMID: 31256862
Postnatal Diagnosis of a Baby With Multiple Rare Congenital Anomalies Including Syngnathia, Brain Dysmorphism, and Skin Pigmentation.
Mahgoub L, Joynt C, Bhargava R, Davies D, El-Hakim H, Dobrovolsky W
Cleft Palate Craniofac J 2015 Nov;52(6):e201-4. Epub 2014 Oct 17 doi: 10.1597/14-069. PMID: 25325328
Holoprosencephaly.
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
Syntelencephaly presenting with spastic diplegia.
Coleman LT, McCubbin JP, Smith LJ, Reddihough DS, Gardner RJ
Neuropediatrics 2000 Aug;31(4):206-10. doi: 10.1055/s-2000-7455. PMID: 11071147
Syntelencephaly in an infant of a diabetic mother.
Robin NH, Ko LM, Heeger S, Muise KL, Judge N, Bangert BA
Am J Med Genet 1996 Dec 30;66(4):433-7. doi: 10.1002/(SICI)1096-8628(19961230)66:4<433::AID-AJMG9>3.0.CO;2-L. PMID: 8989462

Prognosis

Disorders of Ventral Induction/Spectrum of Holoprosencephaly.
Calloni SF, Caschera L, Triulzi FM
Neuroimaging Clin N Am 2019 Aug;29(3):411-421. Epub 2019 Apr 13 doi: 10.1016/j.nic.2019.03.003. PMID: 31256862
Holoprosencephaly: a survey of the entity, with embryology and fetal imaging.
Winter TC, Kennedy AM, Woodward PJ
Radiographics 2015 Jan-Feb;35(1):275-90. doi: 10.1148/rg.351140040. PMID: 25590404
Postnatal Diagnosis of a Baby With Multiple Rare Congenital Anomalies Including Syngnathia, Brain Dysmorphism, and Skin Pigmentation.
Mahgoub L, Joynt C, Bhargava R, Davies D, El-Hakim H, Dobrovolsky W
Cleft Palate Craniofac J 2015 Nov;52(6):e201-4. Epub 2014 Oct 17 doi: 10.1597/14-069. PMID: 25325328
Distortion of the anterior part of the interhemispheric fissure: significance and implications for prenatal diagnosis.
Vinurel N, Van Nieuwenhuyse A, Cagneaux M, Garel C, Quarello E, Brasseur M, Picone O, Ferry M, Gaucherand P, des Portes V, Guibaud L
Ultrasound Obstet Gynecol 2014 Mar;43(3):346-52. Epub 2014 Jan 2 doi: 10.1002/uog.12498. PMID: 23640781
Holoprosencephaly.
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

Sinus pericranii associated with syntelencephaly: a case report.
Fujino S, Enokizono M, Ihara S, Kono T, Miyama S
BMC Neurol 2022 Aug 25;22(1):316. doi: 10.1186/s12883-022-02764-5. PMID: 36008788Free PMC Article
Holoprosencephaly: a survey of the entity, with embryology and fetal imaging.
Winter TC, Kennedy AM, Woodward PJ
Radiographics 2015 Jan-Feb;35(1):275-90. doi: 10.1148/rg.351140040. PMID: 25590404
Distortion of the anterior part of the interhemispheric fissure: significance and implications for prenatal diagnosis.
Vinurel N, Van Nieuwenhuyse A, Cagneaux M, Garel C, Quarello E, Brasseur M, Picone O, Ferry M, Gaucherand P, des Portes V, Guibaud L
Ultrasound Obstet Gynecol 2014 Mar;43(3):346-52. Epub 2014 Jan 2 doi: 10.1002/uog.12498. PMID: 23640781
Neuropathology of holoprosencephaly.
Marcorelles P, Laquerriere A
Am J Med Genet C Semin Med Genet 2010 Feb 15;154C(1):109-19. doi: 10.1002/ajmg.c.30249. PMID: 20104606
Holoprosencephaly.
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

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