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Thick corpus callosum

MedGen UID:
371993
Concept ID:
C1835194
Finding
Synonyms: Large corpus callosum; Thickened corpus callosum
 
HPO: HP:0007074

Definition

Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain. [from HPO]

Conditions with this feature

Cohen syndrome
MedGen UID:
78539
Concept ID:
C0265223
Congenital Abnormality
Cohen syndrome is characterized by failure to thrive in infancy and childhood; truncal obesity in the teen years; early-onset hypotonia and developmental delays; microcephaly developing during the first year of life; moderate to profound psychomotor retardation; progressive retinochoroidal dystrophy and high myopia; neutropenia in many with recurrent infections and aphthous ulcers in some; a cheerful disposition; joint hypermobility; and characteristic facial features.
Temtamy syndrome
MedGen UID:
347474
Concept ID:
C1857512
Disease or Syndrome
Temtamy syndrome is a mental retardation/multiple congenital anomaly syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus (summary by Akizu et al., 2013).
Macrocephaly/megalencephaly syndrome, autosomal recessive
MedGen UID:
812742
Concept ID:
C3806412
Disease or Syndrome
Macrocephaly refers to an abnormally enlarged head inclusive of the scalp, cranial bones, and intracranial contents. Macrocephaly may be due to megalencephaly (true enlargement of the brain parenchyma), and the 2 terms are often used interchangeably in the genetic literature (reviews by Olney, 2007 and Williams et al., 2008). Autosomal recessive macrocephaly/megalencephaly syndrome is characterized by an enlarged cranium apparent at birth or in early childhood. Affected individuals have intellectual disability and may have dysmorphic facial features resulting from the macrocephaly (summary by Alfaiz et al., 2014).
Complex cortical dysplasia with other brain malformations 4
MedGen UID:
815750
Concept ID:
C3809420
Disease or Syndrome
Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene.
Developmental and epileptic encephalopathy, 18
MedGen UID:
815954
Concept ID:
C3809624
Disease or Syndrome
Developmental and epileptic encephalopathy-18 (DEE18) is a severe autosomal recessive neurologic disorder characterized by lack of psychomotor development apparent from birth, dysmorphic facial features, and early onset of refractory seizures. Brain imaging shows a thick corpus callosum and persistent cavum septum pellucidum on brain imaging (summary by Basel-Vanagaite et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
MedGen UID:
861164
Concept ID:
C4012727
Disease or Syndrome
MPPH (megalencephaly-postaxial polydactyly-polymicrogyria-hydrocephalus) syndrome is a developmental brain disorder characterized by megalencephaly (brain overgrowth) with the cortical malformation bilateral perisylvian polymicrogyria (BPP). At birth the occipital frontal circumference (OFC) ranges from normal to 6 standard deviations (SD) above the mean for age, sex, and gestational age; in older individuals the range is from 3 to 10 SD above the mean. A variable degree of ventriculomegaly is seen in almost all children with MPPH syndrome; nearly 50% of individuals have frank hydrocephalus. Neurologic problems associated with BPP include oromotor dysfunction (100%), epilepsy (50%), and mild-to-severe intellectual disability (100%). Postaxial hexadactyly occurs in 50% of individuals with MPPH syndrome.
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
MedGen UID:
863179
Concept ID:
C4014742
Disease or Syndrome
MPPH (megalencephaly-postaxial polydactyly-polymicrogyria-hydrocephalus) syndrome is a developmental brain disorder characterized by megalencephaly (brain overgrowth) with the cortical malformation bilateral perisylvian polymicrogyria (BPP). At birth the occipital frontal circumference (OFC) ranges from normal to 6 standard deviations (SD) above the mean for age, sex, and gestational age; in older individuals the range is from 3 to 10 SD above the mean. A variable degree of ventriculomegaly is seen in almost all children with MPPH syndrome; nearly 50% of individuals have frank hydrocephalus. Neurologic problems associated with BPP include oromotor dysfunction (100%), epilepsy (50%), and mild-to-severe intellectual disability (100%). Postaxial hexadactyly occurs in 50% of individuals with MPPH syndrome.
Syndromic X-linked intellectual disability 34
MedGen UID:
902184
Concept ID:
C4225417
Mental or Behavioral Dysfunction
X-linked syndromic intellectual developmental disorder-34 (MRXS34) is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with poor speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum (summary by Mircsof et al., 2015).
Macrocephaly, dysmorphic facies, and psychomotor retardation
MedGen UID:
934733
Concept ID:
C4310766
Disease or Syndrome
Macrocephaly, dysmorphic facies, and psychomotor retardation (MDFPMR) is an autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay. Affected individuals have characteristic dysmorphic facial features and persistently large head, but increased birth weight normalizes with age. Additional neurologic features, including seizures, hypotonia, and gait ataxia, may also occur. Patients show severe intellectual impairment (summary by Ortega-Recalde et al., 2015).
Intellectual disability, autosomal dominant 53
MedGen UID:
1623344
Concept ID:
C4540481
Mental or Behavioral Dysfunction
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
MedGen UID:
1648439
Concept ID:
C4748927
Disease or Syndrome
Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations (MCCCHCM) is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities on brain imaging. Affected individuals have enlargement of the corpus callosum, enlarged ventricles, and cerebellar and brainstem hypoplasia. Other features may include lack of speech development, gait instability, and seizures. Some patients with MAST1 mutations may have impaired intellectual development and/or autism spectrum disorder without significant findings on brain imaging (summary by Tripathy et al., 2018).
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
MedGen UID:
1684848
Concept ID:
C5231456
Disease or Syndrome
Diets-Jongmans syndrome
MedGen UID:
1714920
Concept ID:
C5394263
Disease or Syndrome
Diets-Jongmans syndrome (DIJOS) is an autosomal dominant disorder characterized by mild to moderately impaired intellectual development with a recognizable facial gestalt (summary by Diets et al., 2019).
Developmental and epileptic encephalopathy 98
MedGen UID:
1794227
Concept ID:
C5562017
Disease or Syndrome
Developmental and epileptic encephalopathy-98 (DEE98) is characterized by onset of seizures in the first decade (range infancy to late childhood) associated with variable global developmental delay. Other features may include hypotonia, spasticity, and quadriparesis. Brain imaging may be normal or show nonspecific and variable abnormalities, including polymicrogyria. The severity is variable; some patients may die of refractory status epilepticus (summary by Vetro et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Developmental and epileptic encephalopathy 99
MedGen UID:
1794228
Concept ID:
C5562018
Disease or Syndrome
Developmental and epileptic encephalopathy-99 (DEE99) is characterized by onset of seizures in early childhood associated with global developmental delay and severely impaired intellectual development. Other features may include hypotonia, quadriparesis, nystagmus, and apnea. Brain imaging may be normal or show nonspecific and variable abnormalities, including cerebral atrophy and polymicrogyria. The severity is variable; some patients die of refractory status epilepticus (summary by Vetro et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.

Professional guidelines

PubMed

Rosenfeld JA, Amrom D, Andermann E, Andermann F, Veilleux M, Curry C, Fisher J, Deputy S, Aylsworth AS, Powell CM, Manickam K, Heese B, Maisenbacher M, Stevens C, Ellison JW, Upton S, Moeschler J, Torres-Martinez W, Stevens A, Marion R, Pereira EM, Babcock M, Morrow B, Sahoo T, Lamb AN, Ballif BC, Paciorkowski AR, Shaffer LG
Neurogenetics 2012 Feb;13(1):31-47. Epub 2012 Jan 5 doi: 10.1007/s10048-011-0306-5. PMID: 22218741

Recent clinical studies

Etiology

Schneeweiss MR, Dale B, Ejaz R
BMJ Case Rep 2022 Dec 7;15(12) doi: 10.1136/bcr-2022-248995. PMID: 36593604Free PMC Article
Maguolo A, Antoniazzi F, Spano A, Fiorini E, Gaudino R, Mauro M, Cantalupo G, Biban P, Maitz S, Cavarzere P
Ital J Pediatr 2018 Sep 19;44(1):110. doi: 10.1186/s13052-018-0568-8. PMID: 30231930Free PMC Article
Shinar S, Har-Toov J, Lerman-Sagie T, Malinger G
Ultrasound Obstet Gynecol 2016 Oct;48(4):452-457. Epub 2016 Aug 30 doi: 10.1002/uog.15678. PMID: 26282069
Quattrocchi CC, Zanni G, Napolitano A, Longo D, Cordelli DM, Barresi S, Randisi F, Valente EM, Verdolotti T, Genovese E, Specchio N, Vitiello G, Spiegel R, Bertini E, Bernardi B
Neurogenetics 2013 Feb;14(1):77-83. Epub 2012 Dec 30 doi: 10.1007/s10048-012-0352-7. PMID: 23274687

Diagnosis

Schneeweiss MR, Dale B, Ejaz R
BMJ Case Rep 2022 Dec 7;15(12) doi: 10.1136/bcr-2022-248995. PMID: 36593604Free PMC Article
Bardin R, Leibovitz Z, Mashiach R, Ben-Sira L, Salman L
J Matern Fetal Neonatal Med 2022 Sep;35(17):3305-3308. Epub 2020 Sep 22 doi: 10.1080/14767058.2020.1818208. PMID: 32962467
Jogu SS, Singanamalla B, Madaan P, Ahuja CK, Saini L
Trop Doct 2021 Oct;51(4):604-605. Epub 2021 Jun 24 doi: 10.1177/00494755211026281. PMID: 34167384
Shinar S, Har-Toov J, Lerman-Sagie T, Malinger G
Ultrasound Obstet Gynecol 2016 Oct;48(4):452-457. Epub 2016 Aug 30 doi: 10.1002/uog.15678. PMID: 26282069
Lerman-Sagie T, Ben-Sira L, Achiron R, Schreiber L, Hermann G, Lev D, Kidron D, Malinger G
Ultrasound Obstet Gynecol 2009 Jul;34(1):55-61. doi: 10.1002/uog.6356. PMID: 19449354

Prognosis

Maguolo A, Antoniazzi F, Spano A, Fiorini E, Gaudino R, Mauro M, Cantalupo G, Biban P, Maitz S, Cavarzere P
Ital J Pediatr 2018 Sep 19;44(1):110. doi: 10.1186/s13052-018-0568-8. PMID: 30231930Free PMC Article
Nakamura Y, Togawa Y, Okuno Y, Muramatsu H, Nakabayashi K, Kuroki Y, Ieda D, Hori I, Negishi Y, Togawa T, Hattori A, Kojima S, Saitoh S
Brain Dev 2018 Feb;40(2):134-139. Epub 2017 Oct 12 doi: 10.1016/j.braindev.2017.08.003. PMID: 28893434
Shinar S, Har-Toov J, Lerman-Sagie T, Malinger G
Ultrasound Obstet Gynecol 2016 Oct;48(4):452-457. Epub 2016 Aug 30 doi: 10.1002/uog.15678. PMID: 26282069
Lerman-Sagie T, Ben-Sira L, Achiron R, Schreiber L, Hermann G, Lev D, Kidron D, Malinger G
Ultrasound Obstet Gynecol 2009 Jul;34(1):55-61. doi: 10.1002/uog.6356. PMID: 19449354

Clinical prediction guides

Carlston CM, Bleyl SB, Andrews A, Meyers L, Brown S, Bayrak-Toydemir P, Bale JF, Botto LD
Am J Med Genet A 2019 May;179(5):792-796. Epub 2019 Feb 17 doi: 10.1002/ajmg.a.61091. PMID: 30773818
Nakamura Y, Togawa Y, Okuno Y, Muramatsu H, Nakabayashi K, Kuroki Y, Ieda D, Hori I, Negishi Y, Togawa T, Hattori A, Kojima S, Saitoh S
Brain Dev 2018 Feb;40(2):134-139. Epub 2017 Oct 12 doi: 10.1016/j.braindev.2017.08.003. PMID: 28893434
Rosenfeld JA, Amrom D, Andermann E, Andermann F, Veilleux M, Curry C, Fisher J, Deputy S, Aylsworth AS, Powell CM, Manickam K, Heese B, Maisenbacher M, Stevens C, Ellison JW, Upton S, Moeschler J, Torres-Martinez W, Stevens A, Marion R, Pereira EM, Babcock M, Morrow B, Sahoo T, Lamb AN, Ballif BC, Paciorkowski AR, Shaffer LG
Neurogenetics 2012 Feb;13(1):31-47. Epub 2012 Jan 5 doi: 10.1007/s10048-011-0306-5. PMID: 22218741

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