Possible Causes for cerebellar hypoplasia or agenesis 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] 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] 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] Ectropion Severe brain malformations such as lissencephaly, cerebellar hypoplasia, and dysgenesis/agenesis of the corpus callosum are frequently present. [disorders.eyes.arizona.edu] 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] 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] 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] 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] 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] Dilated Cardiomyopathy Type 3B 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] 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] 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] Benign Adult Familial Myoclonic Epilepsy […] 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] 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] Benign Lipomatous Neoplasm 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] 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] 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] 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] 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] 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] Infantile Hepatic Hemangioendothelioma Anomalies include posterior fossa malformations, including Dandy-Walker complex, cerebellar hypoplasia, atrophy, and dysgenesis/agenesis of the vermis. [cancer.gov] Intellectual Disability 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] 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] 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] 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] 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] 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] […] 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] 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] […] 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] 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] Central Sleep Apnea The patient’s brain MRI revealed corpus callosum agenesis, pontine, and cerebellar hypoplasia. 7 To our knowledge, this is the first case of Vici syndrome featuring CSA. [pediatrics.aappublications.org]
