Cerebellar Hypoplasia or Agenesis: Causes & Reasons

Warning: Do not use in emergencies, if pregnant, if under 18, or as a substitute for a doctor’s advice or diagnosis. Learn more

Possible Causes for Cerebellar Hypoplasia or Agenesis

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]

Complex Cortical Dysplasia with other Brain Malformations Type 1

The second subtype was lissencephaly (n = 7), either classical (4/7) or associated with cerebellar hypoplasia (3/7) with corpus callosum agenesis (6/7). [hal.inserm.fr]

[…] vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis. [rarediseases.info.nih.gov]

All foetuses with lissencephaly and cerebellar hypoplasia carried distinct TUBA1A mutations, while those with classical lissencephaly harbored recurrent mutations in TUBA1A [hal.inserm.fr]

Absence of Septum Pellucidum

/dysgenesis racing car sign intracranial lipoma malformations of the cerebellum cerebellar hypoplasia focal hypoplasia generalized hypoplasia with enlarged fourth ventricle [radiopaedia.org]

[…] septo-optic dysplasia lobar holoprosencephaly semilobar holoprosencephaly alobar holoprosencephaly middle interhemispheric variant/syntelencephaly corpus callosum corpus callosum agenesis [radiopaedia.org]

Muller-Barth-Menger Syndrome

The clinical features described are hydrocephaly, macrocephaly, cerebellar agenesis/hypoplasia, hyperreflexia, corpus callosum/pellucidum agenesis, hypotonia/spasticity/rigidity [accessanesthesiology.mhmedical.com]

Clinical aspects The clinical features described for this medical condition are hydrocephaly, macrocephaly, cerebellar agenesis/hypoplasia, hyperreflexia, corpus callosum/ [accesspediatrics.mhmedical.com]

Brachmann-De Lange-Like Facial Changes with Microcephaly, Metatarsus Adductus, and Developmental Delay

and cerebellar vermian hypoplasia or agenesis. [emedicine.medscape.com]

[…] ventricles, including enlargement of basal cisterns; thinning or atrophy of white matter, particularly frontal lobes, with relative sparing of parietal lobes; brainstem hypoplasia [emedicine.medscape.com]

Brachydactylous Dwarfism Type Mseleni

hypoplasia/agenesis isolated cerebellar hypoplasia 2504 Metaphyseal dysplasia—maxillary hypoplasia—brachydacty metaphyseal dysplasia with maxillary hypoplasia and brachydactyly [academic.oup.com]

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

[…] thumbs-hypospadias-maxillary diastema 156731 Dyssegmental dysplasia, Rolland-Desbuquois type dyssegmental dysplasia Rolland-Desbuquois type 180126 Total septate uterus septate uterus 1398 Isolated cerebellar [academic.oup.com]

Tubulinopathy

There is also a high association with ventriculomegaly, corpus callosal agenesis (up to 40%), and cerebellar hypoplasia of varying degrees in these patients as well 3. [radiopaedia.org]

[…] of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. 25 Okumura A...Yamamoto T 22633752 2013 18 A novel syndrome caused by the E410K amino acid substitution [malacards.org]

Tubulinopathies are also characterized by a high prevalence of corpus callosum agenesis (32/80; 40%), and mild to severe cerebellar hypoplasia and dysplasia (63/80; 78.7%) [ncbi.nlm.nih.gov]

Microphthalmia - Ankyloblepharon - Intellectual Disability Syndrome

Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Clinodactyly of fifth finger - Coloboma of the eyelid - Cranial nerves palsy - Dandy-Walker anomaly - Defect [csbg.cnb.csic.es]

[…] vermis hypoplasia Long eyelashes Agenesis of cerebellar vermis Skeletal dysplasia Pes cavus Decreased lacrimation Parietal foramina Broad columella Bifid nose Broad philtrum [mendelian.co]

[…] of corpus callosum X-linked recessive inheritance Cerebellar hypoplasia Dilatation Recurrent respiratory infections Hernia Respiratory distress Inguinal hernia Cerebellar [mendelian.co]

Neu-Laxova Syndrome Type 2

These include lissencephaly, cerebellar hypoplasia and/or abnormal/agenesis of the corpus callosum. [malacards.org]

Complex Cortical Dysplasia with other Brain Malformations Type 7

[…] or agenesis, abnormal basal ganglia and cerebellar hypoplasia. [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]

Lissencephaly either classic (6/8) or with cerebellar hypoplasia (2/8) are corpus callosum agenesis was the second group. None were microcephalic. [ashg.org]

Complex Cortical Dysplasia with other Brain Malformations Type 8

Brain malformations include: A range of lissencephalies (classic lissencephaly, lissencephaly with cerebellar hypoplasia, lissencephaly with agenesis of the corpus callosum [ncbi.nlm.nih.gov]

cerebellar vermian hypoplasia, and disorders of neuronal migration Abnormalities associated with absence of septum pellucidum holoprosencephaly, agenesis of the corpus callosum [quizlet.com]

[…] and ponto-cerebellar hypoplasia. [link.springer.com]

Bagatelle-Cassidy Syndrome

[…] ataxia ectodermal dysplasia Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss Cerebellar hypoplasia Cerebellar hypoplasia tapetoretinal [rarediseases.info.nih.gov]

[…] degeneration Cerebellar hypoplasia with endosteal sclerosis Cerebelloparenchymal disorder 3 Cerebellum agenesis hydrocephaly Cerebral autosomal recessive arteriopathy with [rarediseases.info.nih.gov]

[…] ventricular tachycardia Catel Manzke syndrome Caudal appendage deafness Caudal regression sequence Central core disease Cerebellar ataxia and hypogonadotropic hypogonadism Cerebellar [rarediseases.info.nih.gov]

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]

PACS1-Related Syndrome

The most frequent findings involve the cerebellar vermis (hypoplasia and partial agenesis). [ncbi.nlm.nih.gov]

A computed-tomography scan of the brain revealed a partial agenesis of the vermis and hypoplasia of the cerebellar hemispheres, which was more pronounced on the right side [ncbi.nlm.nih.gov]

[…] or partial agenesis of the cerebellar vermis is most common finding Ocular anomalies 11/35 Coloboma of the iris, retina, &/or optic nerve, myopia, strabismus, nystagmus DD [ncbi.nlm.nih.gov]

X-Linked Cerebral-Cerebellar-Coloboma Syndrome

[…] hypotonia agenesis or severe hypoplasia of cerebellar vermis more Abdomen Gastrointestinal: meckel diverticulum Respiratory: hyperpnea, periodic apnea, periodic Head And [malacards.org]

hypoplasia, corpus callosum agenesis, polydactyly and skeletal dysplasia. [scienceopen.com]

hypoplasia syndrome X-linked intellectual disability, Cilliers type X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome X-linked intellectual [familydiagnosis.com]

Partial Pancreatic Agenesis

Pancreatic and cerebellar agenesis (PACA) [MIM:609069]: A disease characterized by neonatal diabetes mellitus, cerebellar agenesis or hypoplasia, severe intrauterine growth [genecards.org]

Disease description A disease characterized by neonatal diabetes mellitus, cerebellar agenesis or hypoplasia, severe intrauterine growth retardation, the presence of very [uniprot.org]

Cerebellar agenesis. In: Cerebellar disorders in children. Boltshauser E and Schammann JD, Eds. 2012 Mac Keith Press, London. pp.117-121 Boltshauser E. [rarediseases.org]

Congenital Cerebellar Hypoplasia

hypoplasia, dysplasia, and enlargement; agenesis of vermis; cerebellar agenesis; and cerebellar aplasia. [medlink.com]

Cerebellar hypoplasia : factsheet from NINDS, the National Institute of Neurological Disorders and Stroke (US site) Cerebellar agenesis : information from NORD, the National [ucl.ac.uk]

When Karly was 18 weeks pregnant, Kassidy was diagnosed with Dandy Walker Malformation, agenesis of the corpus callosum, and cerebellar hypoplasia. [bringingupbetty.com]

Lissencephaly

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

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]

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]

Deletion of 18q23

Abstract We report on a fetus with multiple congenital anomalies including atypical lissencephaly, corpus callosum agenesis, cerebellar hypoplasia, cleft palate, ventricular [unboundmedicine.com]

cerebellar hypoplasia, cleft palate, ventricular septal defect, and hypoplastic aortic arch. [unboundmedicine.com]

[…] journal of medical genetics JO - Eur J Med Genet VL - 51 IS - 3 N2 - We report on a fetus with multiple congenital anomalies including atypical lissencephaly, corpus callosum agenesis [unboundmedicine.com]

Joubert Syndrome Type 3

[…] of the brainstem occipital encephalocele ( 17160906 ) malformation of brainstem structures ’molar tooth sign’ on MRI cerebellar vermis hypoplasia dysgenesis or agenesis of [humpath.com]

[…] vermis anomaly / agenesis / hypoplasia - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Oculomotor apraxia / dyspraxia - Renal [csbg.cnb.csic.es]

[…] vermis agenesis or hypoplasia A variety of other abnormalities have been described in children with Joubert syndrome, including a characteristic facial appearance, delayed [jclpca.org]

Opitz G/BBB Syndrome Type 1

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]

[…] abnormalities hypospadias cryptorchidism hypoplastic scrotum bifid scrotum congenital hearing defects imperforate or ectopic anus midline brain defects Dandy- Walker malformation agenesis [radiopaedia.org]

Colpocephaly

(PVL) Enlargement of the cisterna magna Cerebellar hypoplasia Causes[edit] There is no known definitive single mechanism that causes colpocephaly. [en.wikipedia.org]

[…] spasticity seizures cerebral palsy Intracranial abnormalities include: Microcephaly Agenesis of the corpus callosum Meningomyelocele Lissencephaly Periventricular leukomalacia [en.wikipedia.org]

[…] complete agenesis of the corpus callosum intellectual disability motor abnormalities visual defects such as, crossing of the eyes, missing visual fields, and optic nerve hypoplasia [en.wikipedia.org]

Lissencephaly 6 with Microcephaly

Lissencephaly with agenesis of corpus callosum and rudimentary dysplastic cerebellum: a subtype of lissencephaly with cerebellar hypoplasia. [webmedcentral.com]

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

intracranial calcifications, cerebellar hypoplasia, facial dysmorphism, microophthalmia, exophthalmus, cataracts, absent eyelids, hydrops, ichthyosis, contractures of extremities [slideshare.net]

Cranioacrofacial Syndrome

Cerebellar hypoplasia endosteal sclerosis. Cerebellar agenesis. (Мозжечковая агенезия) Hypoplasia of the cerebellum tapetoretinalnoy degeneration. [en.google-info.org]

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

Cerebellar parenchymal degeneration. (Мозжечковая дегенерация паренхиматозных) Hypoplasia of the cerebellum. [en.google-info.org]

Fibular Dimelia-Diplopodia Syndrome

[…] vermis anomaly/agenesis/hypoplasia Cerebral vascular anomalies Corpus callosum/septum pellucidum total/partial agenesis Cortical atrophy without hydrocephaly/cerebral hemiatrophy [readbag.com]

Hypothyroidy Thyroiditis Structural anomalies of the nervous system/of the brain Agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect Cerebellum/cerebellar [readbag.com]

[…] hypogenitalism Parathyroids anomalies Hyperparathyroidy Hypoparathyroidy Precocious menopause/secondary amenorrhea Precocious puberty Primary amenorrhea Thyroid anomalies Ectopic/agenesis [readbag.com]

Pachygyria-Mental Retardation-Seizures

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

intracranial calcifications, cerebellar hypoplasia, facial dysmorphism, microophthalmia, exophthalmus, cataracts, absent eyelids, hydrops, ichthyosis, contractures of extremities [myslide.es]

Lissencephaly is found in Neu-Laxova syndrome, lethal autosomal recessively inherited disorder consisting of growth retardation, microcephaly, lissencephaly, corpus callosum agenesis [es.slideshare.net]

Muscular Dystrophy-Dystroglycanopathy Type A7

[…] pyramids, hypomyelination, hypoplasia or agenesis of the corpus callosum, occipital encephalocele, and Dandy–Walker malformation. [neurologyindia.com]

Central nervous system abnormalities include type II cobblestone lissencephaly, hydrocephalus, vermian and generalized cerebellar malformation, a flat brain stem with small [neurologyindia.com]

Opitz G/BBB Syndrome Type 2

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

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

[…] involvement in Opitz syndrome (vermis hypoplasia or agenesis). [jmg.bmj.com]

MEND Syndrome

Computed tomography (CT) scanning of the skull showed agenesis of corpus callosum, cerebellar hypoplasia, agenesis of cerebellar vermis and Dandy-Walker cyst. [medicaljournals.se]

Lissencephaly 4 with Microcephaly

Lissencephaly with agenesis of corpus callosum and rudimentary dysplastic cerebellum: a subtype of lissencephaly with cerebellar hypoplasia. [webmedcentral.com]

In the variants of classical lissencephaly, extra-cortical anomalies are also present (total or subtotal agenesis of the corpus callosum and/or cerebellar hypoplasia). [orpha.net]

In type I variants exist extracorticales anomalies (total or subtotal agenesis of corpus callosum and / or cerebellar hypoplasia), allowing subdivided into several subgroups [ivami.com]