U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Macroencephaly

MedGen UID:
439426
Concept ID:
C2720434
Congenital Abnormality
Synonym: Megalencephaly
SNOMED CT: Macroencephaly (9740002); Megalencephaly (9740002)

Definition

A rare central nervous system malformation characterized by an abnormally large brain, accompanied by abnormal head circumference measurements evident at birth or developing over the first years of life. The condition can be unilateral or bilateral and affects males more often than females. There is no typical pattern of symptoms, but mental retardation, seizures, and other neurologic abnormalities have been reported. [from ORPHANET]

Professional guidelines

PubMed

Shinar S, Chitayat D, Shannon P, Blaser S
Prenat Diagn 2023 Dec;43(13):1650-1661. Epub 2023 Nov 27 doi: 10.1002/pd.6473. PMID: 38009873
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K
Genet Med 2020 Feb;22(2):389-397. Epub 2019 Aug 7 doi: 10.1038/s41436-019-0612-0. PMID: 31388190Free PMC Article
Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG
Am J Med Genet A 2015 Feb;167A(2):287-95. Epub 2014 Dec 31 doi: 10.1002/ajmg.a.36836. PMID: 25557259Free PMC Article

Recent clinical studies

Etiology

Funk CB, Prasad AN, Frosk P, Sauer S, Kölker S, Greenberg CR, Del Bigio MR
Brain 2005 Apr;128(Pt 4):711-22. Epub 2005 Feb 2 doi: 10.1093/brain/awh401. PMID: 15689364
Levy ML, Meltzer HS, Hughes S, Aryan HE, Yoo K, Amar AP
J Neurosurg 2004 Aug;101(1 Suppl):25-31. doi: 10.3171/ped.2004.101.2.0025. PMID: 16206968

Therapy

Acosta MT, Pearl PL
Curr Neurol Neurosci Rep 2003 Mar;3(2):149-56. doi: 10.1007/s11910-003-0067-0. PMID: 12583844

Prognosis

Funk CB, Prasad AN, Frosk P, Sauer S, Kölker S, Greenberg CR, Del Bigio MR
Brain 2005 Apr;128(Pt 4):711-22. Epub 2005 Feb 2 doi: 10.1093/brain/awh401. PMID: 15689364

Clinical prediction guides

Baslow MH, Guilfoyle DN
Neurochem Res 2009 Sep;34(9):1523-34. Epub 2009 Mar 25 doi: 10.1007/s11064-009-9958-z. PMID: 19319678

Supplemental Content

Table of contents

    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.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...