Agenesis of Corpus Callosum & Mental Retardation: Causes & Reasons

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Patient File

Sex unknown, Age unknown

Reported Symptoms

Agenesis of Corpus Callosum, Mental Retardation,

Negated

None

Unsure

None

Possible Causes

Dandy-Walker Syndrome

Cranial ultrasonogram and computed tomography scan showed Dandy-Walker syndrome, agenesis of corpus callosum and hydrocephalus. [ncbi.nlm.nih.gov]

A young boy presented with mental retardation and seizures with extensive hairy naevi. [ncbi.nlm.nih.gov]

Abstract The Dandy-Walker syndrome is said to be associated with a high incidence of mental retardation and motor dysfunction leading some to suggest termination of the affected [ncbi.nlm.nih.gov]

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Septo-Optic Dysplasia

An uncommon association of infantile spasms, septo-optic dysplasia, partial agenesis of the corpus callosum and an interhemispheric cyst is described in a child. [ncbi.nlm.nih.gov]

An 11 and 1/2-year-old Caucasian Southeast European female patient with earlier established diagnoses of growth hormone deficiency, diabetes insipidus, seizures, mental retardation [ncbi.nlm.nih.gov]

In a discrete number of cases, schizencephaly, agenesis of the corpus callosum or other cortical malformations are associated (SOD-plus). [ncbi.nlm.nih.gov]

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Acrocallosal Syndrome

The diagnosis of acrocallosal syndrome was arrived at after neuroimaging showed agenesis of corpus callosum with interhemispheric cysts. [ncbi.nlm.nih.gov]

Acrocallosal syndrome (ACS) is an autosomal recessive condition, characterized by agenesis of the corpus callosum, pre- and postaxial polydactyly, minor craniofacial anomalies [ncbi.nlm.nih.gov]

Jump to search syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental [wikidata.org]

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Patau Syndrome

* Agenesis of the Corpus Callosum * Enlarged Cisterna Magna. * Microcephaly. * Meningocele / encephalocele. [fetalultrasound.com]

Survivors suffer from severe mental retardation and health problems all their lives. [symptoma.com]

[…] of the corpus callosum persistent stapedial artery 5 retinal dysplasia 3 spinal anomalies spina bifida intrauterine growth restriction (IUGR): tends to be early abnormal [radiopaedia.org]

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Mowat-Wilson Syndrome

[…] of the corpus callosum. [symptoma.com]

retardation. [books.google.de]

Recently mutations in the gene ZFHX1B (SIP1) were shown in patients with "syndromic Hirschsprung disease" with mental retardation (MR) and multiple congenital anomalies (MCA [ncbi.nlm.nih.gov]

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Fetal Warfarin Syndrome

Associated conditions include hypoplasia of nasal bridge, laryngomalacia, pectus carinatum, congenital heart defects, ventriculomegaly, agenesis of the corpus callosum, stippled [definitions.net]

retardation Skeletal Severe rhizomelia Stippling disappears after the first year Stippling of uncalcified epiphyses particularly of axial skeleton (vertebrae and pelvis) [datagenno.com]

[…] of corpus callosum microcephaly microphthalmia congenital cataracts cardiovascular congenital cardiac anomalies Warfarin is a teratogenic drug. [radiopaedia.org]

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Lenz-Majewski Syndrome

[…] of corpus callosum 0001274 Bifid uvula 0000193 External genital hypoplasia Underdevelopment of external reproductive organs 0003241 High, narrow palate Narrow, high-arched [rarediseases.info.nih.gov]

Characterized by multiple congenital anomalies (delayed closure of fontanel, proximal symphalangism, prominent scalp cutaneous veins), mental retardation, and progressive [accessanesthesiology.mhmedical.com]

Lenz-Majewski syndrome - congenital anomalies, mental retardation, sclerosis of the skeletal system. [medical-dictionary.thefreedictionary.com]

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Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

Agenesis of the Corpus Callosum. [slideplayer.com]

Retrusion, and Mental Retardation Sensenbrenner syndrome Shprintzen Golberg Craniosynostosis Skeletal Dysplasia, San Diego Type Spondyloepiphyseal Dysplasia with Coronal [rgd.mcw.edu]

Other anomalies associated with Dandy-Walker Malformation include agenesis of the Corpus Callosum, Aqueduct of Sylvius stenosis, microcephaly, encephalocele, gyral malformations [neurosurgerydallas.com]

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Infantile Choroidocerebral Calcification Syndrome

Also seen in corpus callosum agenesis. [ultrasound-images.com]

GEO for disease gene expression data for Choroid Plexus Calcification and Mental Retardation. [malacards.org]

[…] in a patient with agenesis of corpus callosum. [ijri.org]

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Frontonasal Dysplasia

Our series also had a high frequency of patients with agenesis of the corpus callosum (12 cases), basal encephalocele (10 cases), lipoma of the corpus callosum (four cases [ncbi.nlm.nih.gov]

The clinical, the CT scan and the operative findings of a case of frontonasal dysplasia with spastic paraplegia, mental retardation, blindness, and cleft lip and cleft palate [ncbi.nlm.nih.gov]

retardation. [ncbi.nlm.nih.gov]

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Lissencephaly

MRI showed diffuse pachygyria, moderate thickening of the cortex, enlarged ventricles, agenesis of the corpus callosum and septum pellucidum. [ncbi.nlm.nih.gov]

We generated three types of mice with knocked-in ARX mutations associated with X-linked lissencephaly (P353R) and mental retardation [P353L and 333ins(GCG)7]. [ncbi.nlm.nih.gov]

MRI disclosed cerebral agyria, hypoplastic cerebral mantle and posterior agenesis of the corpus callosum. The propositus, a boy, died soon after birth at term. [ncbi.nlm.nih.gov]

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Hypertelorism

Abstract Agenesis of corpus callosum (ACC) can have various development abnormalities spectrum. [ijdr.in]

The phenotype of the patients is different from that of all other previously described types of X-linked mental retardation (XLMR). [ncbi.nlm.nih.gov]

retardation and seizures. [ncbi.nlm.nih.gov]

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Acquired Porencephaly

Chiari II malformation 434 Congenital muscle dystrophy and leukodystrophy Fukuyama 436 Corpus callosum agenesis Plexus papilloma 438 Lipoma of the corpus callosum 440 LESIONS [books.google.com]

Growth and development: Mental retardation. Behavior and performance: Feeding difficulty. [bridges4kids.org]

In agenesis of the corpus callosum, there is superior extension of the roof of the third ventricle in 80% of cases. [fetalsono.com]

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Aprosencephaly and Cerebellar Dysgenesis

Disorders of Midline Prosencephalic Development: Agenesis of Corpus Callosum Anomalous development of the 3 telencephalic commissures (corpus callosum, anterior commissure [sites.google.com]

Mental Retardation 11 (Mrx11, Xlmr11) X-Linked Mental Retardation 12 (Mrx12, Xlmr12) X-Linked Mental Retardation 13 (Mrx13, Xlmr13) X-Linked Mental Retardation 14 (Mrx14, [neo-genetics.com]

What do you get when there is a complete or partial absence of the corpus callosum? Agenesis of the corpus callosum WHEN DOES AGENESIS OF CORPUS CALLOSUM OCCUR? [cram.com]

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Aicardi's Syndrome

Aicardi's syndrome, which is characterized by agenesis of the corpus callosum, specific chorioretinal abnormalities, and defects of vertebrae and ribs, is considered a probable [ncbi.nlm.nih.gov]

Common manifestations are seizures, mental retardation and lesions on the retina. [myvmc.com]

Abstract Aicardi's syndrome is the association of three main features: infantile spasms, chorioretinopathia with lacunae and agenesis of the corpus callosum. [ncbi.nlm.nih.gov]

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Apert Syndrome

Magnetic resonance excluded agenesis of corpus callosum and confirmed bilateral mild ventriculomegaly. [ncbi.nlm.nih.gov]

Andere Ausgaben - Alle anzeigen Medical aspects of mental retardation Charles H. [books.google.com]

Apert syndrome was diagnosed in a newborn with typical facial and digital features whose only detected prenatal abnormality had been agenesis of the corpus callosum. [ncbi.nlm.nih.gov]

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Autosomal Recessive Primary Microcephaly Type 10

[…] of the corpus callosum Hypermetropia Lissencephaly Heterotopia Pachygyria Sloping forehead Polymicrogyria Agenesis of corpus callosum Abnormal facial shape Coarctation of [mendelian.co]

Retardation, Autosomal Dominant 20 Mental Retardation, Autosomal Dominant 35 Mental Retardation, Autosomal Dominant 36 Mental Retardation, X-Linked 102 Mental Retardation [familydiagnosis.com]

retardation 105 300984 300975 X-linked recessive USP9X Xp11.4 Mental retardation, X-linked 99 300919 300072 X-linked recessive USP9X Xp11.4 Mental retardation, X-linked 99 [mnglabs.com]

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Pfeiffer-Palm-Teller Syndrome

[…] of corpus callosum Partial atrioventricular canal Partial deletion of Y Partial gigantism in context of NF Partial lissencephaly Partington Anderson syndrome Partington Mulley [bioreference.net]

[…] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Joint stiffness Stiff joint Stiff joints [ more ] 0001387 Short stature [rarediseases.info.nih.gov]

Polysyndactyly trigonocephaly agenesis of corpus callosum[?] Polysyndactyly type 4[?] Polysyndactyly type Haas[?] Poncet-Spiegler's cylindroma[?] [encyclopedia.kids.net.au]

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Seckel Syndrome

The child, additionally, had agenesis of the corpus callosum. [ncbi.nlm.nih.gov]

It is extremely rare and typically causes dwarfism, mental retardation, intrauterine growth retardation and microcephaly. [symptoma.com]

CNS anomalies seen in our patients included agenesis of the corpus callosum, a dysgenetic cerebral cortex, a large dorsal cerebral cyst, and pachygyria, suggesting an underlying [ncbi.nlm.nih.gov]

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Cerebellotrigeminal Dermal Dysplasia

A reduced corpus callosum is present in some cases(agenesis of the corpus callosum). [en.wikipedia.org]

There have been 19 cases documented to date and we report on two additional male patients, 1 and 6 years of age, with typical features, mild mental retardation and dyspraxia [ncbi.nlm.nih.gov]

callosum is present in some cases( agenesis of the corpus callosum ). [6] MRI showing fusion of cerebellar hemispheres common in GLH syndrome Behavioral [ edit ] Gomez-Lopez-Hernandez [en.wikipedia.org]

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Baraitser-Winter Syndrome 1

Rutherford, Post-mortem Characterisation of a Case With an ACTG1 Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia, Frontiers in Physiology, 10.3389/fphys.2019.00623 [doi.org]

Abstract To sibs and an unrelated single patient have a combination of iris coloboma, ptosis, hypertelorism, broad nasal bridge, short stature, and mental retardation. [ncbi.nlm.nih.gov]

Microcephaly and morphological aberrations in the brain such as lissencephaly, agenesis of the corpus callosum and pachygyria are present. [disorders.eyes.arizona.edu]

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Gorlin Psaume Syndrome

[…] of the corpus callosum. [eurorad.org]

retardation. [semanticscholar.org]

retardation; bradydactyly; hypoplastic nasal cartilages; seborrheic changes; dystopia canthus; pseudocleft of upper lip; alopecia; missing mandibular lateral incisors. [esanatos.com]

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Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

The parents’ research also indicated that half of the children have brain abnormalities, such as Hypoplasia of the brain and/or partial agenesis of the corpus callosum (55% [bohring-opitz.org]

[…] with mental retardation syndrome type 4 PGAP3 Hyperphosphatasia with mental retardation syndrome type 5 PIGW Hypogonadism, alopecia, Diabetes mellitus, mental retardation [centogene.com]

Presentation [ 5, 6 ] Severe growth restriction, microcephaly, hydrocephalus, corpus callosum agenesis. [patient.info]

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Prata-Libéral-Gonçalves Syndrome

[…] of corpus callosum Partial atrioventricular canal Partial gigantism in context of NF Partington Anderson syndrome Partington Mulley syndrome Parvovirus antenatal infection [mindmappedia.com]

Acrodysostosis is an extremely rare congenital (present at birth) disorder marked by problems in the bones of the hands, feet, and nose, and mental retardation. [checkorphan.org]

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Warburg Micro Syndrome 3

Magnetic resonance images showing corpus callosum agenesis and cerebral atrophy (e and f) Click here to view His MRI showed corpus callosum agenesis and cerebral atrophy. [pediatricneurosciences.com]

retardation, spastic diplegia, and hypogonadism. [malacards.org]

The neurodevelopmental and ophthalmological phenotype is more severe in Warburg Micro syndrome in which cerebral malformations and severe motor and mental retardation are [link.springer.com]

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Infantile Neuroaxonal Dystrophy

A computed tomography scan of the head revealed agenesis of the corpus callosum. She died at the age of 9 months. [ncbi.nlm.nih.gov]

[…] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Intention tremor 0002080 Lewy bodies 0100315 Mental deterioration Cognitive [rarediseases.info.nih.gov]

(OMIM phenotype number #600329 ) Osteopetrosis and infantile neuroaxonal dystrophy is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and [iofbonehealth.org]

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Familial Porencephaly

Corpus callosum agenesis and lissencephaly or pachygyria formed the major group. [cags.org.ae]

Other symptoms include seizures, mental retardation, paralysis and deficient muscle tone. [amplexa.com]

[…] deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Intracranial hemorrhage Bleeding within the skull 0002170 Ischemic stroke [rarediseases.info.nih.gov]

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Marshall-Smith Syndrome

We describe a 5 year old patient with this rare syndrome, who has optic atrophy and agenesis of the corpus callosum, but has no respiratory problems so far. [ncbi.nlm.nih.gov]

Marshall-Smith syndrome is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. [ncbi.nlm.nih.gov]

Marshall-Smith syndrome is characterized by overgrowth, advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features and variable mental retardation [ncbi.nlm.nih.gov]

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Postaxial Oligodactyly, Tetramelic

[…] of Corpus Callosum with Facial Anomalies and Robin Sequence Arachnodactyly Arms, Malformation of Atelosteogenesis Type 3 autosomal recessive Robinow syndrome B-Cell Immunodeficiency [crrd.mcw.edu]

Most have hypotonia, constipation, and partial agenesis of the corpus callosum. [mendelian.co]

Mental retardation u – Mental retardation x Mental retardation unusual facies Ampola type Mental retardation unusual facies Davis–Lafer type Mental retardation unusual facies [sosu.us]

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Miller Dieker Syndrome

The proband was determined at birth owing to the presence of multiple congenital anomalies, including low birth weight, microcephaly, agenesis of the corpus callosum, lissencephaly [ncbi.nlm.nih.gov]

Post natal growth deficiency: microcephaly, profound mental retardation. [ncbi.nlm.nih.gov]

Another study also reported lissencephaly and agenesis of the corpus callosum on CT imaging. [symptoma.com]

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