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Abnormal corpus callosum morphology

MedGen UID:
334198
Concept ID:
C1842581
Anatomical Abnormality; Finding
Synonyms: Abnormality of the corpus callosum; Corpus callosum abnormalities
 
HPO: HP:0001273

Definition

Abnormality of the corpus callosum. [from HPO]

Conditions with this feature

CEDNIK syndrome
MedGen UID:
332113
Concept ID:
C1836033
Disease or Syndrome
Cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma syndrome (CEDNIK) refers to a unique constellation of clinical manifestations including global developmental delay with hypotonia, roving eye movements or nystagmus, poor motor skills, and impaired intellectual development with speech delay. More variable features include microcephaly, feeding difficulties, seizures, ocular anomalies, hearing loss, and nonspecific dysmorphic facial features. Palmoplantar keratoderma and ichthyosis or neuropathy develop in some patients. Brain magnetic resonance imaging (MRI) shows varying degrees of cerebral dysgenesis, including absence of the corpus callosum and cortical dysplasia, as well as hypomyelination, white matter loss, and white matter signal anomalies suggestive of a leukodystrophy. Some patients may show developmental regression; many die in childhood (Fuchs-Telem et al., 2011; Mah-Som et al., 2021). With more patients being reported, several authors (Diggle et al., 2017; Llaci et al., 2019; Mah-Som et al., 2021) have observed that the dermatologic features and peripheral neuropathy show reduced penetrance and are more variable manifestations of this disorder, as they are not observed in all patients with biallelic SNAP29 mutations.
Joubert syndrome 2
MedGen UID:
334114
Concept ID:
C1842577
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Mowat-Wilson syndrome
MedGen UID:
341067
Concept ID:
C1856113
Disease or Syndrome
Mowat-Wilson syndrome (MWS) is characterized by distinctive facial features (widely spaced eyes, broad eyebrows with a medial flare, low-hanging columella, prominent or pointed chin, open-mouth expression, and uplifted earlobes with a central depression), congenital heart defects with predilection for abnormalities of the pulmonary arteries and/or valves, Hirschsprung disease or chronic constipation, genitourinary anomalies (particularly hypospadias in males), and hypogenesis or agenesis of the corpus callosum. Most affected individuals have moderate-to-severe intellectual disability. Speech is typically limited to a few words or is absent, with relative preservation of receptive language skills. Growth restriction with microcephaly and seizure disorder are also common. Most affected people have a happy demeanor and a wide-based gait that can sometimes be confused with Angelman syndrome.
Joubert syndrome 7
MedGen UID:
369401
Concept ID:
C1969053
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Intellectual disability, autosomal dominant 14
MedGen UID:
766161
Concept ID:
C3553247
Disease or Syndrome
Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by Kosho et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900). The chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies.
Intellectual disability, autosomal dominant 15
MedGen UID:
766162
Concept ID:
C3553248
Disease or Syndrome
Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCB1 mutations may have more severe neurodevelopmental deficits including severe intellectual disability, brain structural abnormalities, and no expressive words, as well as scoliosis (summary by Kosho et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (135900).
O'Donnell-Luria-Rodan syndrome
MedGen UID:
1677602
Concept ID:
C5193138
Disease or Syndrome
O'Donnell-Luria-Rodan syndrome (ODLURO) is a neurodevelopmental disorder characterized by global developmental delay, speech delay, variably delayed intellectual development, and subtle dysmorphic features. Some patients may have autism, seizures, hypotonia, and/or feeding difficulties (summary by O'Donnell-Luria et al., 2019).
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
MedGen UID:
1684757
Concept ID:
C5231470
Disease or Syndrome
Neurodevelopmental disorder with nonspecific brain abnormalities is a highly variable syndrome characterized by impaired intellectual development and behavioral abnormalities associated with structural changes on brain imaging. Some patients have seizures, hypotonia, and scoliosis/kyphosis. Cognitive function ranges from severely impaired to the ability to attend schools with special assistance (summary by Fischer-Zirnsak et al., 2019).

Professional guidelines

PubMed

Beheshtian M, Akhtarkhavari T, Mehvari S, Mohseni M, Fattahi Z, Abedini SS, Arzhangi S, Fadaee M, Jamali P, Najafipour R, Kalscheuer VM, Hu H, Ropers HH, Najmabadi H, Kahrizi K
Clin Genet 2021 Jan;99(1):187-192. Epub 2020 Sep 14 doi: 10.1111/cge.13845. PMID: 32895917

Recent clinical studies

Etiology

Tonduti D, Zambon AA, Ghezzi D, Lamantea E, Izzo R, Parazzini C, Baldoli C, van der Knaap MS, Fumagalli F
Neuropediatrics 2023 Jun;54(3):161-166. Epub 2023 Mar 3 doi: 10.1055/s-0043-1764214. PMID: 36868263
Lip-Sosa DL, Pérez-Cruz M, Ahumada-Droguett P, Ribas-Prats T, Puertollano M, García-Gómez MA, Mazarico E, Eixarch E, Escera C, Gómez-Roig MD
Ultrasound Obstet Gynecol 2023 Aug;62(2):226-233. doi: 10.1002/uog.26169. PMID: 36722073
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
Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844. PMID: 31408229
Prendergast DM, Karlsgodt KH, Fales CL, Ardekani BA, Szeszko PR
Schizophr Res 2018 Sep;199:266-273. Epub 2018 Apr 13 doi: 10.1016/j.schres.2018.04.008. PMID: 29656909

Diagnosis

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
Nilles C, Delgadillo D, Sarazin M, Nichelli L, Mokhtari K, Mathon B, Choquet S, Feuvret L, Alentorn A, Ribeiro M, Hoang-Xuan K, Houillier C
J Neurooncol 2022 May;158(1):99-109. Epub 2022 Apr 21 doi: 10.1007/s11060-022-04014-7. PMID: 35445956
Syngelaki A, Hammami A, Bower S, Zidere V, Akolekar R, Nicolaides KH
Ultrasound Obstet Gynecol 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844. PMID: 31408229
Leombroni M, Khalil A, Liberati M, D'Antonio F
Eur J Paediatr Neurol 2018 Nov;22(6):951-962. Epub 2018 Oct 21 doi: 10.1016/j.ejpn.2018.08.007. PMID: 30448279
Unterberger I, Bauer R, Walser G, Bauer G
Seizure 2016 Apr;37:55-60. Epub 2016 Mar 3 doi: 10.1016/j.seizure.2016.02.012. PMID: 27010176

Therapy

Tao B, Xiao Y, Li B, Yu W, Zhu F, Gao Z, Cao H, Gong Q, Gu S, Qiu C, Lui S
Asian J Psychiatr 2023 Aug;86:103659. Epub 2023 Jun 3 doi: 10.1016/j.ajp.2023.103659. PMID: 37327564
Frank Y
Pediatr Neurol 2021 Sep;122:59-64. Epub 2021 Jun 16 doi: 10.1016/j.pediatrneurol.2021.06.002. PMID: 34325981
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
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
Rajan DS, Popescu A
Neurology 2012 Apr 24;78(17):1366. doi: 10.1212/WNL.0b013e318251838b. PMID: 22529205

Prognosis

De Keersmaecker B, Jansen K, Aertsen M, Naulaers G, De Catte L
Am J Obstet Gynecol 2024 Apr;230(4):456.e1-456.e9. Epub 2023 Oct 8 doi: 10.1016/j.ajog.2023.10.007. PMID: 37816486
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
BoAli AY, Alfadhel M, Tabarki B
Neurosciences (Riyadh) 2018 Apr;23(2):97-103. doi: 10.17712/nsj.2018.2.20170481. PMID: 29664449Free PMC Article
Prendergast DM, Karlsgodt KH, Fales CL, Ardekani BA, Szeszko PR
Schizophr Res 2018 Sep;199:266-273. Epub 2018 Apr 13 doi: 10.1016/j.schres.2018.04.008. PMID: 29656909
Volpe P, Campobasso G, De Robertis V, Rembouskos G
Prenat Diagn 2009 Apr;29(4):340-54. doi: 10.1002/pd.2208. PMID: 19184971

Clinical prediction guides

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
Tonduti D, Zambon AA, Ghezzi D, Lamantea E, Izzo R, Parazzini C, Baldoli C, van der Knaap MS, Fumagalli F
Neuropediatrics 2023 Jun;54(3):161-166. Epub 2023 Mar 3 doi: 10.1055/s-0043-1764214. PMID: 36868263
Byrne H, Spencer APC, Geary G, Jary S, Thoresen M, Cowan FM, Brooks JCW, Chakkarapani E
Ann Clin Transl Neurol 2023 Jan;10(1):32-47. Epub 2022 Dec 8 doi: 10.1002/acn3.51696. PMID: 36480557Free PMC Article
Nilles C, Delgadillo D, Sarazin M, Nichelli L, Mokhtari K, Mathon B, Choquet S, Feuvret L, Alentorn A, Ribeiro M, Hoang-Xuan K, Houillier C
J Neurooncol 2022 May;158(1):99-109. Epub 2022 Apr 21 doi: 10.1007/s11060-022-04014-7. PMID: 35445956
Tripathy R, Leca I, van Dijk T, Weiss J, van Bon BW, Sergaki MC, Gstrein T, Breuss M, Tian G, Bahi-Buisson N, Paciorkowski AR, Pagnamenta AT, Wenninger-Weinzierl A, Martinez-Reza MF, Landler L, Lise S, Taylor JC, Terrone G, Vitiello G, Del Giudice E, Brunetti-Pierri N, D'Amico A, Reymond A, Voisin N, Bernstein JA, Farrelly E, Kini U, Leonard TA, Valence S, Burglen L, Armstrong L, Hiatt SM, Cooper GM, Aldinger KA, Dobyns WB, Mirzaa G, Pierson TM, Baas F, Chelly J, Cowan NJ, Keays DA
Neuron 2018 Dec 19;100(6):1354-1368.e5. Epub 2018 Nov 15 doi: 10.1016/j.neuron.2018.10.044. PMID: 30449657Free PMC Article

Recent systematic reviews

Dulski J, Souza J, Santos ML, Wszolek ZK
Orphanet J Rare Dis 2023 Jun 22;18(1):160. doi: 10.1186/s13023-023-02772-9. PMID: 37349768Free PMC Article
Chen Y, Wang Y, Song Z, Fan Y, Gao T, Tang X
Ageing Res Rev 2023 Jun;87:101911. Epub 2023 Mar 15 doi: 10.1016/j.arr.2023.101911. PMID: 36931328
Connaughton M, Whelan R, O'Hanlon E, McGrath J
Neuroimage Clin 2022;33:102957. Epub 2022 Feb 7 doi: 10.1016/j.nicl.2022.102957. PMID: 35149304Free PMC Article
Milani AC, Hoffmann EV, Fossaluza V, Jackowski AP, Mello MF
Psychiatry Clin Neurosci 2017 Mar;71(3):154-169. Epub 2017 Jan 6 doi: 10.1111/pcn.12473. PMID: 27778421
Najjar S, Pearlman DM
Schizophr Res 2015 Jan;161(1):102-12. Epub 2014 Jun 16 doi: 10.1016/j.schres.2014.04.041. PMID: 24948485

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