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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
A newborn case of adenylosuccinate lyase deficiency with a novel heterozygous mutation diagnosed by whole exome sequencing.
Cakmak Celik F, Ozlu MM, Ceylaner S
Clin Neurol Neurosurg 2021 Mar;202:106506. Epub 2021 Jan 19 doi: 10.1016/j.clineuro.2021.106506. PMID: 33497949
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

Recent clinical studies

Etiology

Long-term cognitive outcomes in Susac syndrome: A case series.
Piura Y, Bregman N, Kavé G, Karni A, Kolb H, Vigiser I, Day GS, Lopez-Chiriboga S, Shiner T, Regev K
J Neuroimmunol 2024 Aug 15;393:578396. Epub 2024 Jun 20 doi: 10.1016/j.jneuroim.2024.578396. PMID: 38908330
Interhemispheric Communication in Down Syndrome.
Piccirilli M, D'Alessandro P, Elisei S
Psychiatr Danub 2023 Dec;35(Suppl 3):62-65. PMID: 37994063
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
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
Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.
Putoux A, Alqahtani A, Pinson L, Paulussen AD, Michel J, Besson A, Mazoyer S, Borg I, Nampoothiri S, Vasiljevic A, Uwineza A, Boggio D, Champion F, de Die-Smulders CE, Gardeitchik T, van Putten WK, Perez MJ, Musizzano Y, Razavi F, Drunat S, Verloes A, Hennekam R, Guibaud L, Alix E, Sanlaville D, Lesca G, Edery P
Clin Genet 2016 Dec;90(6):550-555. Epub 2016 Jun 2 doi: 10.1111/cge.12781. PMID: 27040866

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
Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.
Olson HE, Demarest ST, Pestana-Knight EM, Swanson LC, Iqbal S, Lal D, Leonard H, Cross JH, Devinsky O, Benke TA
Pediatr Neurol 2019 Aug;97:18-25. Epub 2019 Feb 23 doi: 10.1016/j.pediatrneurol.2019.02.015. PMID: 30928302Free PMC Article
INTRAVITREAL TRIAMCINOLONE IN SUSAC SYNDROME.
Yepez JB, Murati FA, Pettito M, Arevalo JF
Retin Cases Brief Rep 2017 Summer;11(3):236-239. doi: 10.1097/ICB.0000000000000344. PMID: 27276498
Susac's syndrome.
Susac JO
AJNR Am J Neuroradiol 2004 Mar;25(3):351-2. PMID: 15037453Free PMC Article

Therapy

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
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
Shapiro syndrome.
Mathur S, Mathur A, Dubey T, Jain S, Mathur S, Agarwal H, Kulshrestha M, Jangid R, Ram C
J Assoc Physicians India 2013 Jun;61(6):418-20. PMID: 24640213

Prognosis

Long-term cognitive outcomes in Susac syndrome: A case series.
Piura Y, Bregman N, Kavé G, Karni A, Kolb H, Vigiser I, Day GS, Lopez-Chiriboga S, Shiner T, Regev K
J Neuroimmunol 2024 Aug 15;393:578396. Epub 2024 Jun 20 doi: 10.1016/j.jneuroim.2024.578396. PMID: 38908330
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
Diffusion MRI: Pitfalls, literature review and future directions of research in mild traumatic brain injury.
Delouche A, Attyé A, Heck O, Grand S, Kastler A, Lamalle L, Renard F, Krainik A
Eur J Radiol 2016 Jan;85(1):25-30. Epub 2015 Nov 7 doi: 10.1016/j.ejrad.2015.11.004. PMID: 26724645
Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.
McMahon KQ, Papandreou A, Ma M, Barry BJ, Mirzaa GM, Dobyns WB, Scott RH, Trump N, Kurian MA, Paciorkowski AR
Am J Med Genet A 2015 Dec;167A(12):3096-102. Epub 2015 Sep 14 doi: 10.1002/ajmg.a.37353. PMID: 26364767Free PMC Article
Walker-Warburg syndrome variant.
Pabuşçu Y, Bulakbasi N, Kocaoğlu M, Uçöz T
Comput Med Imaging Graph 2002 Nov-Dec;26(6):453-8. doi: 10.1016/s0895-6111(02)00026-5. PMID: 12453509

Clinical prediction guides

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
Diffusion MRI: Pitfalls, literature review and future directions of research in mild traumatic brain injury.
Delouche A, Attyé A, Heck O, Grand S, Kastler A, Lamalle L, Renard F, Krainik A
Eur J Radiol 2016 Jan;85(1):25-30. Epub 2015 Nov 7 doi: 10.1016/j.ejrad.2015.11.004. PMID: 26724645
Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature.
Khalifa O, Al-Sahlawi Z, Imtiaz F, Ramzan K, Allam R, Al-Mostafa A, Abdel-Fattah M, Abuharb G, Nester M, Verloes A, Al-Zaidan H
Eur J Med Genet 2015 May;58(5):293-9. Epub 2015 Feb 13 doi: 10.1016/j.ejmg.2014.12.008. PMID: 25682901
Transient renal dysfunction with reversible splenial lesion.
Watanabe T, Matsuda T, Kitagata R, Tajima I, Ono H, Hirano K, Shirai M, Endoh A, Hongo T
Pediatr Int 2014 Oct;56(5):e68-71. doi: 10.1111/ped.12412. PMID: 25336014
The alien hand: cases, categorizations, and anatomical correlates.
Scepkowski LA, Cronin-Golomb A
Behav Cogn Neurosci Rev 2003 Dec;2(4):261-77. doi: 10.1177/1534582303260119. PMID: 15006289

Recent systematic reviews

Neurosurgical intervention for the Meckel-Gruber Syndrome: A systematic review.
Junior JHMF, Junior SP, Pustilnik HN, de Almeida Leão L, da Paz MGDS, Araujo TB, de Deus FOG, Alcântara T, Dourado JC, de Avellar LM
Childs Nerv Syst 2024 Jul;40(7):2161-2168. Epub 2024 Mar 9 doi: 10.1007/s00381-024-06346-3. PMID: 38459147
Callosotomy vs Vagus Nerve Stimulation in the Treatment of Lennox-Gastaut Syndrome: A Systematic Review With Meta-Analysis.
Ferreira Soares D, Pires de Aguiar PH
Neuromodulation 2023 Apr;26(3):518-528. Epub 2022 Aug 19 doi: 10.1016/j.neurom.2022.06.005. PMID: 35989160
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
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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