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Corpus callosum agenesis-macrocephaly-hypertelorism syndrome

MedGen UID:
1801729
•Concept ID:
C5679998
•
Disease or Syndrome
Synonyms: 7q36.3 microduplication syndrome; Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome; corpus callosum agenesis-macrocephaly-hypertelorism syndrome; Dup(7)(q36.3); dup(7)(q36.3)
SNOMED CT: 7q36.3 microduplication syndrome (1208720000); Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (1208720000)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018725
Orphanet: ORPHA459074

Definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCorpus callosum agenesis-macrocephaly-hypertelorism syndrome

Professional guidelines

PubMed

Prenatal diagnosis of Coffin-Siris syndrome: What are the fetal features?
Yu QX, Jing XY, Lin XM, Zhen L, Li DZ
Prenat Diagn 2022 Nov;42(12):1488-1492. Epub 2022 Jul 18 doi: 10.1002/pd.6213. PMID: 35801292
Diagnosis and management of congenital neurologic disease during pregnancy.
Mandel AM
Handb Clin Neurol 2020;171:291-311. doi: 10.1016/B978-0-444-64239-4.00015-1. PMID: 32736756
Treatment of epileptic encephalopathies.
McTague A, Cross JH
CNS Drugs 2013 Mar;27(3):175-84. doi: 10.1007/s40263-013-0041-6. PMID: 23397290

Recent clinical studies

Etiology

Interhemispheric Communication in Down Syndrome.
Piccirilli M, D'Alessandro P, Elisei S
Psychiatr Danub 2023 Dec;35(Suppl 3):62-65. PMID: 37994063
Rhomboencephalosynapsis: Review of the Literature.
Fouda MA, Kim TY, Cohen AR
World Neurosurg 2022 Mar;159:48-53. Epub 2021 Dec 22 doi: 10.1016/j.wneu.2021.12.062. PMID: 34954057
Vici syndrome: a review.
Byrne S, Dionisi-Vici C, Smith L, Gautel M, Jungbluth H
Orphanet J Rare Dis 2016 Feb 29;11:21. doi: 10.1186/s13023-016-0399-x. PMID: 26927810Free PMC Article
Treatment of epileptic encephalopathies.
McTague A, Cross JH
CNS Drugs 2013 Mar;27(3):175-84. doi: 10.1007/s40263-013-0041-6. PMID: 23397290
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article

Diagnosis

Interhemispheric Communication in Down Syndrome.
Piccirilli M, D'Alessandro P, Elisei S
Psychiatr Danub 2023 Dec;35(Suppl 3):62-65. PMID: 37994063
Agenesis of the corpus callosum and hepatoblastoma.
Luckie TM, Potter SL, Bacino CA, Shah R, Heczey A, Venkatramani R
Am J Med Genet A 2020 Jan;182(1):224-228. Epub 2019 Nov 15 doi: 10.1002/ajmg.a.61417. PMID: 31729153
Seeing is not believing.
Foster Z, Kini A, Al Othman B, Lee AG, Vaphiades M
Surv Ophthalmol 2020 May-Jun;65(3):386-390. Epub 2019 Apr 4 doi: 10.1016/j.survophthal.2019.03.008. PMID: 30953621
Susac's Syndrome--update.
Rennebohm R, Susac JO, Egan RA, Daroff RB
J Neurol Sci 2010 Dec 15;299(1-2):86-91. Epub 2010 Sep 19 doi: 10.1016/j.jns.2010.08.032. PMID: 20855088
Agenesis and dysgenesis of the corpus callosum.
Dávila-Gutiérrez G
Semin Pediatr Neurol 2002 Dec;9(4):292-301. doi: 10.1053/spen.2002.32505. PMID: 12523553

Therapy

The Neurological Manifestations of Phelan-McDermid Syndrome.
Frank Y
Pediatr Neurol 2021 Sep;122:59-64. Epub 2021 Jun 16 doi: 10.1016/j.pediatrneurol.2021.06.002. PMID: 34325981
Exercise effects on depression: Possible neural mechanisms.
Gujral S, Aizenstein H, Reynolds CF 3rd, Butters MA, Erickson KI
Gen Hosp Psychiatry 2017 Nov;49:2-10. doi: 10.1016/j.genhosppsych.2017.04.012. PMID: 29122145Free PMC Article
CLIPPERS: chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids. Review of an increasingly recognized entity within the spectrum of inflammatory central nervous system disorders.
Dudesek A, Rimmele F, Tesar S, Kolbaske S, Rommer PS, Benecke R, Zettl UK
Clin Exp Immunol 2014 Mar;175(3):385-96. doi: 10.1111/cei.12204. PMID: 24028073Free PMC Article
Treatment of epileptic encephalopathies.
McTague A, Cross JH
CNS Drugs 2013 Mar;27(3):175-84. doi: 10.1007/s40263-013-0041-6. PMID: 23397290
Susac's Syndrome--update.
Rennebohm R, Susac JO, Egan RA, Daroff RB
J Neurol Sci 2010 Dec 15;299(1-2):86-91. Epub 2010 Sep 19 doi: 10.1016/j.jns.2010.08.032. PMID: 20855088

Prognosis

Children with corpus callosum anomalies: clinical characteristics and developmental outcomes.
Jańczewska I, Preis-Orlikowska J, Domżalska-Popadiuk I, Preis K, Jańczewska A
Neurol Neurochir Pol 2023;57(3):269-281. Epub 2023 Apr 20 doi: 10.5603/PJNNS.a2023.0026. PMID: 37078131
Diagnosis and management of congenital neurologic disease during pregnancy.
Mandel AM
Handb Clin Neurol 2020;171:291-311. doi: 10.1016/B978-0-444-64239-4.00015-1. PMID: 32736756
Disorders of prosencephalic development.
Volpe P, Campobasso G, De Robertis V, Rembouskos G
Prenat Diagn 2009 Apr;29(4):340-54. doi: 10.1002/pd.2208. PMID: 19184971
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article
Update on Susac's syndrome.
Gross M, Eliashar R
Curr Opin Neurol 2005 Jun;18(3):311-4. doi: 10.1097/01.wco.0000169751.46568.f0. PMID: 15891418

Clinical prediction guides

Children with corpus callosum anomalies: clinical characteristics and developmental outcomes.
Jańczewska I, Preis-Orlikowska J, Domżalska-Popadiuk I, Preis K, Jańczewska A
Neurol Neurochir Pol 2023;57(3):269-281. Epub 2023 Apr 20 doi: 10.5603/PJNNS.a2023.0026. PMID: 37078131
Capecitabine related neurotoxicity: Clinical and radiologic features.
Ong CS, Gao JL, Tan YJ
J Neurol Sci 2022 Nov 15;442:120444. Epub 2022 Sep 30 doi: 10.1016/j.jns.2022.120444. PMID: 36208584
Demographic, ocular and associated neurological findings in corpus callosum malformations.
Kızıltunç PB, Şahlı E, İdil A, Atilla H
Turk J Pediatr 2021;63(2):291-299. doi: 10.24953/turkjped.2021.02.013. PMID: 33929119
SUSAC SYNDROME.
Patel KH, Haug SJ, Imes RK, Cunningham ET Jr, McDonald HR
Retin Cases Brief Rep 2015 Fall;9(4):363-6. doi: 10.1097/ICB.0000000000000209. PMID: 26352322
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article

Recent systematic reviews

Laser ablation for corpus callosotomy: Systematic review and pooled analysis.
Awad AJ, Kaiser KN
Seizure 2022 Mar;96:137-141. Epub 2022 Feb 6 doi: 10.1016/j.seizure.2022.02.002. PMID: 35245877
Prenatal diagnosis of pericallosal lipoma: Systematic review.
Joigneau Prieto L, Ruiz Y, Pérez R, De León Luis J
Eur J Paediatr Neurol 2019 Nov;23(6):764-782. Epub 2019 Sep 25 doi: 10.1016/j.ejpn.2019.09.009. PMID: 31587959
Central nervous system anomalies in craniofacial microsomia: a systematic review.
Renkema RW, Caron CJJM, Wolvius EB, Dunaway DJ, Forrest CR, Padwa BL, Koudstaal MJ
Int J Oral Maxillofac Surg 2018 Jan;47(1):27-34. Epub 2017 Jul 20 doi: 10.1016/j.ijom.2017.06.009. PMID: 28736116
Corpus callosotomy outcomes in pediatric patients: A systematic review.
Graham D, Tisdall MM, Gill D
Epilepsia 2016 Jul;57(7):1053-68. Epub 2016 May 29 doi: 10.1111/epi.13408. PMID: 27237542
Corpus callosotomy versus vagus nerve stimulation for atonic seizures and drop attacks: A systematic review.
Rolston JD, Englot DJ, Wang DD, Garcia PA, Chang EF
Epilepsy Behav 2015 Oct;51:13-7. Epub 2015 Aug 3 doi: 10.1016/j.yebeh.2015.06.001. PMID: 26247311Free PMC Article

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