U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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
Clinical utility gene card for: Vici Syndrome.
Cullup T, Dionisi-Vici C, Kho AL, Yau S, Mohammed S, Gautel M, Jungbluth H
Eur J Hum Genet 2014 Mar;22(3) Epub 2013 Jul 10 doi: 10.1038/ejhg.2013.142. PMID: 23838600Free PMC Article

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
Incidence of Hearing Loss in Corpus Callosum Agenesis.
Kim J, Jeong M, Yang S, Han JH, Bae SH
Otol Neurotol 2023 Dec 1;44(10):1033-1037. Epub 2023 Sep 20 doi: 10.1097/MAO.0000000000004023. PMID: 37733987
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M
Brain 2020 Oct 1;143(10):2929-2944. doi: 10.1093/brain/awz307. PMID: 32979048Free PMC Article
Nervous System Abnormalities and Legionnaire's Disease.
Halperin JJ
Infect Dis Clin North Am 2017 Mar;31(1):55-68. Epub 2016 Dec 12 doi: 10.1016/j.idc.2016.10.005. PMID: 27979685
Sonographic diagnosis of cerebral malformations. Part 3: agenesis of the corpus callosum - migration disorders.
Deeg KH
Ultraschall Med 2011 Apr;32(2):128-44; quiz 145-6. Epub 2011 Apr 4 doi: 10.1055/s-0029-1245999. PMID: 21465423

Diagnosis

Interhemispheric Communication in Down Syndrome.
Piccirilli M, D'Alessandro P, Elisei S
Psychiatr Danub 2023 Dec;35(Suppl 3):62-65. PMID: 37994063
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
Reversible splenial lesion syndrome.
Kaplan TB, Berkowitz AL
Pract Neurol 2016 Feb;16(1):78-9. Epub 2015 Sep 14 doi: 10.1136/practneurol-2015-001195. PMID: 26371334
Sonographic diagnosis of cerebral malformations. Part 3: agenesis of the corpus callosum - migration disorders.
Deeg KH
Ultraschall Med 2011 Apr;32(2):128-44; quiz 145-6. Epub 2011 Apr 4 doi: 10.1055/s-0029-1245999. PMID: 21465423
Susac's syndrome.
Susac JO
AJNR Am J Neuroradiol 2004 Mar;25(3):351-2. PMID: 15037453Free PMC Article

Therapy

Prolonged Postconcussive Symptoms.
Quinn DK, Mayer AR, Master CL, Fann JR
Am J Psychiatry 2018 Feb 1;175(2):103-111. doi: 10.1176/appi.ajp.2017.17020235. PMID: 29385828Free PMC Article
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
Metronidazole Induced Encephalopathy.
Thakkar N, Bhaarat, Chand R, Sharma R, Mahavar S, Srivastava S, Palawat A
J Assoc Physicians India 2016 Nov;64(11):72-74. PMID: 27805338
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
Interictal epileptiform discharges and asystole.
Nei M, Zangaladze AT, Sharan A, Ho RT
Epilepsy Res 2011 Feb;93(2-3):204-7. Epub 2011 Jan 11 doi: 10.1016/j.eplepsyres.2010.12.001. PMID: 21227654

Prognosis

Incidence of Hearing Loss in Corpus Callosum Agenesis.
Kim J, Jeong M, Yang S, Han JH, Bae SH
Otol Neurotol 2023 Dec 1;44(10):1033-1037. Epub 2023 Sep 20 doi: 10.1097/MAO.0000000000004023. PMID: 37733987
Attention and spatial cognition: Neural and anatomical substrates of visual neglect.
Lunven M, Bartolomeo P
Ann Phys Rehabil Med 2017 Jun;60(3):124-129. Epub 2016 Feb 10 doi: 10.1016/j.rehab.2016.01.004. PMID: 26874577
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
Microlissencephaly.
Sztriha L, Al-Gazali L, Várady E, Nork M, Varughese M
Pediatr Neurol 1998 Apr;18(4):362-5. doi: 10.1016/s0887-8994(97)00213-0. PMID: 9588537
Epilepsy surgery.
Wieser HG
Baillieres Clin Neurol 1996 Dec;5(4):849-75. PMID: 9068885

Clinical prediction guides

Incidence of Hearing Loss in Corpus Callosum Agenesis.
Kim J, Jeong M, Yang S, Han JH, Bae SH
Otol Neurotol 2023 Dec 1;44(10):1033-1037. Epub 2023 Sep 20 doi: 10.1097/MAO.0000000000004023. PMID: 37733987
Dr. Strangelove demystified: Disconnection of hand and language dominance explains alien-hand syndrome after corpus callosotomy.
Helmstaedter C, Solymosi L, Kurthen M, Momjian S, Schaller K
Seizure 2021 Mar;86:147-151. Epub 2021 Feb 16 doi: 10.1016/j.seizure.2021.02.013. PMID: 33621826
Attention and spatial cognition: Neural and anatomical substrates of visual neglect.
Lunven M, Bartolomeo P
Ann Phys Rehabil Med 2017 Jun;60(3):124-129. Epub 2016 Feb 10 doi: 10.1016/j.rehab.2016.01.004. PMID: 26874577
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
Epilepsy surgery.
Wieser HG
Baillieres Clin Neurol 1996 Dec;5(4):849-75. PMID: 9068885

Recent systematic reviews

Corpus callosotomy for refractory epileptic spasms: Systematic review and meta-analysis.
Whitney R, Otsubo H, Cunningham J, Jones KC, RamachandranNair R, Nouri MN, Donner EJ, Ibrahim GM, Arya R, Jain P
Seizure 2024 Dec;123:159-167. Epub 2024 Nov 7 doi: 10.1016/j.seizure.2024.11.001. PMID: 39577169
Deciphering seizure semiology in corpus callosum injuries: A comprehensive systematic review with machine learning insights.
Mondal R, Deb S, Shome G, Chowdhury A, Ghosh K, Benito-León J, Lahiri D
Clin Neurol Neurosurg 2024 Jul;242:108316. Epub 2024 May 7 doi: 10.1016/j.clineuro.2024.108316. PMID: 38762973
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
Neurological Manifestations of COVID-19 Associated Multi-system Inflammatory Syndrome in Children: A Systematic Review and Meta-analysis.
Nepal G, Shrestha GS, Rehrig JH, Gajurel BP, Ojha R, Agrawal A, Panthi S, Khatri B, Adhikari I
J Nepal Health Res Counc 2021 Apr 23;19(1):10-18. doi: 10.33314/jnhrc.v19i1.3410. PMID: 33934126
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...