Cerebellar Hypoplasia or Agenesis Causes & Reasons

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Cerebellar Hypoplasia or Agenesis Symptom Checker: Possible causes include Tarsal Tunnel Syndrome. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.

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Possible Causes

Tarsal Tunnel Syndrome

Midline defects of the brain including corpus callosum agenesis and cerebellar vermis agenesis or hypoplasia have also been reported. [orpha.net]

[…] or hypoplasia of corpus callosum and/or cerebellar vermis Promoted articles (advertising) [radiopaedia.org]

[…] or hypoplasia of the corpus callosumand/or cerebellar vermis). [egl-eurofins.com]

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Acrocallosal Syndrome

hypoplasia of cerebellar hemispheres, hypoplasia of medulla oblongata, agenesis or hypoplasia of cerebellar vermis and corpus callosum abnormalities. [ncbi.nlm.nih.gov]

We report on a case of acrocallosal syndrome with dysmorphic features, macrocephaly, duplicated hallux, agenesis of corpus callosum and unilateral cerebellar hypoplasia. [paedcro.com]

[…] and hypoplasia or agenesis of cerebellar vermis). [orpha.net]

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Haddad Syndrome

Context: Dandy-Walker syndrome (DWS) or malformation (DWM) characterizes a hereditary abnormality categorized via agenesis or hypoplasia of the cerebellar vermis, cystic dilation [semanticscholar.org]

Abstract Context: Dandy-Walker syndrome (DWS) or malformation (DWM) characterizes a hereditary abnormality categorized via agenesis or hypoplasia of the cerebellar vermis, [iranjournals.nlai.ir]

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Ectropion

Severe brain malformations such as lissencephaly, cerebellar hypoplasia, and dysgenesis/agenesis of the corpus callosum are frequently present. [disorders.eyes.arizona.edu]

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Dandy-Walker Syndrome

Cervical and cerebral magnetic resonance imaging revealed Dandy- Walker syndrome, cerebellar hypoplasia, vermian agenesis, corpus callo s urn splenium dys genesis, cranium [healio.com]

Dandy-Walker malformation is an anomaly characterized by dysgenesis of the foramina of Magendie and Lushka in the upper 4(th) ventricle, hypoplasia of the cerebellar vermis [ncbi.nlm.nih.gov]

The autopsy revealed supratentorial hydrocephalus with the presence of choroid plexus papilloma, a cyst in the posterior fossa (fourth ventricle), hypoplasia of the cerebellar [neurologia.com]

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Familial Papillary Thyroid Carcinoma with Papillary Renal Cell Carcinoma

Hypoplasia (LCH) - Lissencephaly with agenesis of the Corpus Callosum (LACC) - Schizencephaly (SCH) - Polymicrogyria (PMG) Classical Lissencephaly Syndromes Diagnostic Criteria [catsclem.nl]

Microcephaly with Simplified Gyral Patterns (MSG) - X-linked Lissencephaly with Ambiguous Genitalia (XLAG) - Baraitser-Winter syndrome (BWS) - Micro Syndrome - Lissencephaly with Cerebellar [catsclem.nl]

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Cervical Radiculitis

[…] degeneration Cerebellar degeneration subacute Cerebellar hypoplasia Cerebellar hypoplasia tapetoretinal degeneration Cerebellar hypoplasia with endosteal sclerosis Cerebellar [personalizedcause.com]

[…] with subcortical infarcts and leukoencephalopathy Cerebral calcification cerebellar hypoplasia Cerebral calcifications opalescent teeth phosphaturia Cerebral cavernous malformation [personalizedcause.com]

[…] liponeurocytoma Cerebello-olivary atrophy Cerebelloparenchymal disorder 3 Cerebellum agenesis hydrocephaly Cerebral astrocytoma childhood Cerebral autosomal recessive arteriopathy [personalizedcause.com]

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Lissencephaly

MRI at 22 weeks of gestation showed microcephaly with agenesis of corpus callosum and cerebellar hypoplasia. Pregnancy was terminated at 22 weeks of gestation. [ncbi.nlm.nih.gov]

The most severe forms of these MCDs are associated with cerebellar hypoplasia and agenesis of the corpus callosum. [neuropathology-web.org]

We also unexpectedly found a TUBA1A mutation in one child with agenesis of the corpus callosum and cerebellar hypoplasia without LIS. [ncbi.nlm.nih.gov]

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Diaphragmatic Hernia

Central nervous system Anecelphaly Ventriculomegaly Spina bifida Cerebellar hypoplasia Cardiovascular Ventricular septal defect Atrial septal defect Coarctation of the aorta [iame.com]

Facial Cleft lip Cleft palate Thorax Pulmonary sequestration Genitourinary Hypospadias Renal agenesis Chromosomal anomalies occur in 5– 34% of fetuses with CDH 10,17,18,22,23 [iame.com]

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Familial Isolated Dilated Cardiomyopathy

Hypoplasia (LCH) - Lissencephaly with agenesis of the Corpus Callosum (LACC) - Schizencephaly (SCH) - Polymicrogyria (PMG) Classical Lissencephaly Syndromes Diagnostic Criteria [catsclem.nl]

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Progressive Myoclonic Epilepsy Type 7

[…] syndrome Corpus callosum agenesis-abnormal genitalia syndrome Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation Cortical dysplasia-focal epilepsy [se-atlas.de]

[…] with brain and eye anomalies Congenital neuronal ceroid lipofuscinosis Congenital toxoplasmosis Constitutional megaloblastic anemia with severe neurologic disease Corneal-cerebellar [se-atlas.de]

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Unverricht-Lundborg Syndrome

[…] genitalia syndrome Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom Microcephaly-corpus callosum hypoplasia-intellectual [orpha.net]

[…] syndrome Microcephaly-complex motor and sensory axonal neuropathy syndrome Microcephaly-congenital cataract-psoriasiform dermatitis syndrome Microcephaly-corpus callosum agenesis-abnormal [orpha.net]

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Benign Adult Familial Myoclonic Epilepsy

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Familial Recurrent Peripheral Facial Palsy

hypoplasia syndrome X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome X-linked intellectual disability-craniofacioskeletal syndrome [se-atlas.de]

[…] spasticity Paroxysmal exertion-induced dyskinesia Paroxysmal extreme pain disorder Paroxysmal kinesigenic dyskinesia Paroxysmal non-kinesigenic dyskinesia Partial corpus callosum agenesis-cerebellar [se-atlas.de]

[…] vermis hypoplasia with posterior fossa cysts syndrome Partington syndrome Pelizaeus-Merzbacher disease Pelizaeus-Merzbacher disease in female carriers Pelizaeus-Merzbacher [se-atlas.de]

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Familial Angiolipomatosis

Hypoplasia (LCH) - Lissencephaly with agenesis of the Corpus Callosum (LACC) - Schizencephaly (SCH) - Polymicrogyria (PMG) Classical Lissencephaly Syndromes Diagnostic Criteria [catsclem.nl]

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Microangiopathy

Brain abnormalities include migrational defect with type II lissencephaly (cobblestone type), hydrocephalus, vermal or general cerebellar hypoplasia, and flat brainstem with [ojoonline.org]

Additional brain anomalies such as hypoplasia/agenesis of the corpus callosum, occipital encephalocele, and Dandy-Walker malformation have been described. [ojoonline.org]

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Vertebrobasilar Insufficiency

Bilateral congenital C2 transverse foraminal hypoplasia with segmental vertebral artery agenesis resulting in adult-onset bilateral cerebellar infarction has not been previously [karger.com]

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PHACE Syndrome

The PHACE acronym refers to the association of: Posterior fossa anomalies- Includes Dandy-Walker malformation, cerebellar hypoplasia or agenesis as well as other central nervous [dermatologyadvisor.com]

Magnetic resonance imaging of the brain, orbit, neck and mediastinum showed cerebellar vermis hypoplasia, agenesis of the corpus callosum and a tortuous tangle of arteries [nature.com]

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Hydrocephalus

cerebellar hypoplasia, or posterior fossa arachnoid cysts. [neuropathology-web.org]

Even using CT and MRI, the diagnosis of the DWM is difficult because in some planes of view it is difficult to distingish agenesis of the vermis from a large cisterna magna [neuropathology-web.org]

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Primary Immune Deficiency Disorder

hypoplasia Isolated biliary atresia Isolated blepharochalasis Isolated bone marrow mastocytosis Isolated brachycephaly Isolated cerebellar agenesis Isolated cerebellar vermis [orpha.net]

agenesis Isolated cerebellar vermis hypoplasia Isolated CHF Isolated chorioretinal dystrophy Isolated cleft lip Isolated cleft of the ala nasi Isolated cloverleaf skull syndrome [orpha.net]

Isolated oxidative phosphorylation complex disorder Isolated oxycephaly Isolated partial cerebellar vermis agenesis Isolated partial vaginal agenesis Isolated Pierre Robin [orpha.net]

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Patau Syndrome

[…] of the corpus callosum); underdevelopment of the cerebellum (cerebellar hypoplasia); hydrocephalus; and/or myelomeningocele. [rarediseases.org]

[…] some cases, additional features may include abnormal tone of voluntary (skeletal) muscles; absence of the band of nerve fibers that joins the two hemispheres of the brain (agenesis [rarediseases.org]

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Infantile Hepatic Hemangioendothelioma

Anomalies include posterior fossa malformations, including Dandy-Walker complex, cerebellar hypoplasia, atrophy, and dysgenesis/agenesis of the vermis. [cancer.gov]

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Mental Retardation

Some ID syndromes are associated with gross brain malformations (e.g. holoprosencephaly, schizencephaly, porencephaly, hydrocephalus, agenesis of corpus callosum, and cerebellar [dx.doi.org]

hypoplasia) or with neuronal migration disorders (e.g. lissencephaly, micropolygyria, double cortex, and ventricular nodular heterotopia) that can be assessed by neuroimaging [dx.doi.org]

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Congenital Hepatic Fibrosis

Joubert syndrome is an autosomal recessive inherited condition characterized by agenesis or hypoplasia of the cerebellar vermis, retinal dystrophy, chorioretinal colobomata [ncbi.nlm.nih.gov]

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Aprosencephaly and Cerebellar Dysgenesis

These malformations included, in particular, posterior fossa abnormalities, such as rhombencephalosynapsis (RES), cerebellar hypoplasia and agenesis, but also pituitary defects [hal.inserm.fr]

12 Families 459070 X-linked intellectual disability- cerebellar hypoplasia-spondylo- epiphyseal dysplasia syndrome 2 Cases 85330 X-linked intellectual disability- corpus callosum [azkurs.org]

[…] findings (Figure 15). 30 Like vermian hypoplasia, agenesis must be assessed in all planes. [jaocr.org]

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Isolated Congenital Sclerocornea

[…] of teeth Postural tremor Increased circulating gonadotropin level Cerebellar vermis atrophy High pitched voice Slurred speech Unilateral renal agenesis Ectopic kidney Sensory [mendelian.co]

Abnormal pyramidal sign Rigidity Mandibular prognathia Diabetes mellitus Clinodactyly Babinski sign Pes cavus Obesity Midface retrusion Renal agenesis Hypotelorism Misalignment [mendelian.co]

Synophrys Broad nasal tip Decreased testicular size Polyneuropathy Falls Sensory neuropathy Triangular face Dysmetria Hypermetropia Dilated cardiomyopathy Retinopathy Renal hypoplasia [mendelian.co]

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Kohlschütter-Tönz Syndrome

[…] vermis hypoplasia Broad thumb EEG abnormality Coarse hair Encephalopathy Hydrocephalus Muscular hypotonia Hepatomegaly Hypertension Milia Low-set ears Infantile onset Splenomegaly [mendelian.co]

Retrognathia Kyphosis Clinodactyly Hypoplasia of the corpus callosum Tremor Neonatal hypotonia Intellectual disability, moderate Camptodactyly Scoliosis Cataract Macrocephaly Agenesis [mendelian.co]

[…] corpus callosum Micropenis Abnormality of the dentition Flat occiput Postnatal microcephaly Microretrognathia Short nose Progressive neurologic deterioration Hypsarrhythmia Cerebellar [mendelian.co]

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Infantile-Onset Ascending Hereditary Spastic Paralysis

hypoplasia syndrome X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome X-linked intellectual disability-craniofacioskeletal syndrome [se-atlas.de]

[…] vermis hypoplasia with posterior fossa cysts syndrome Partington syndrome Pelizaeus-Merzbacher disease Pelizaeus-Merzbacher disease in female carriers Pelizaeus-Merzbacher [se-atlas.de]

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Distal Hereditary Motor Neuropathy Type 1

hypoplasia syndrome X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome X-linked intellectual disability-craniofacioskeletal syndrome [se-atlas.de]

[…] vermis hypoplasia with posterior fossa cysts syndrome Partington syndrome Pelizaeus-Merzbacher disease Pelizaeus-Merzbacher disease in female carriers Pelizaeus-Merzbacher [se-atlas.de]

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Congenital Velopharyngeal Incompetence

Patients with OS may also present with intellectual impairment and brain anomalies such as cerebellar hypoplasia and agenesis of the corpus callosum. [omicsonline.org]

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