Cerebellar Hypoplasia: Causes & Reasons

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Possible Causes for Cerebellar Hypoplasia

Autosomal Dominant Dyskeratosis Congenita Type 2

hypoplasia. [disorders.eyes.arizona.edu]

hypoplasia and growth retardation Diagrams / tables Images hosted on other servers : Defects in cellular proliferation and differentiation that give rise to dyskeratosis [pathologyoutlines.com]

hypoplasia (Hoyeraal‐Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1 SW Knight, NS Heiss, TJ Vulliamy, CM Aalfs, C McMahon, P Richmond, .. [scholar.google.com]

Dyskeratosis Congenita

hypoplasia, severe immunodeficiency, enteropathy, and intrauterine growth retardation. [ncbi.nlm.nih.gov]

hypoplasia More severe disorders and complications include The development in 80% of patients, most often in the second decade of life, of bone marrow deficiency of variable [afdc.asso.fr]

CNS calcification was reported in 15 of the 20 cases in the literature, cerebellar hypoplasia in 2, and 2 cases had both CNS calcifications and cerebellar hypoplasia [12;17 [ncbi.nlm.nih.gov]

Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

Showing of 14 | 80%-99% of people have these symptoms Cerebellar hypoplasia Small cerebellum Underdeveloped cerebellum [ more ] 0001321 Dandy-Walker malformation 0001305 Dolichocephaly [rarediseases.info.nih.gov]

Syringomyelia - Syringobulbia

hypoplasia without displacement of the cerebellum through the foramen magnum probably a variation of cerebellar hypoplasia Chiari V malformation absent cerebellum herniation [radiopaedia.org]

Type IV is a form a cerebellar hypoplasia. [hon.ch]

[…] of the occipital lobe through the foramen magnum Chiari 0 malformation syrinx without cerebellar tonsillar or brain stem descent infrequently used and confusing term to be [radiopaedia.org]

Hoyeraal-Hreidarsson Syndrome

We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental delay. [ncbi.nlm.nih.gov]

Medical Genetics Original Paper Abstract We report on a boy with prenatal growth retardation, progressive pancytopenia, cerebellar hypoplasia, microcephaly and developmental [link.springer.com]

Hreidarsson S, Kristjansson K, Johannesson G, Johannsson JH (1988) A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure. [link.springer.com]

Arnold-Chiari Malformation Type 2

Type IV is a form a cerebellar hypoplasia. [hon.ch]

Muscular Dystrophy-Dystroglycanopathy Type C7

Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy. Neurology. 2009;73:1599–601. PubMed CrossRef Google Scholar 74. [doi.org]

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

hypoplasia syndrome Enlarged parietal foramina Epilepsy-microcephaly-skeletal dysplasia syndrome Epiphysiolysis of the hip Exostoses-anetodermia-brachydactyly type E syndrome [se-atlas.de]

Dandy-Walker Syndrome

hypoplasia, hydrocephalus, and posterior fossa cyst formation. [medical-dictionary.thefreedictionary.com]

[…] callosum and callosal lipomas, dysplasia of the brainstem, and cerebellar hypoplasia or dysgenesis. [asianjns.org]

Magnetic resonance imaging showing Dandy-Walker malformation of the cerebellum, a large cerebrospinal fluid collection in the posterior fossa (A), marked cerebellar hypoplasia [academic.oup.com]

Congenital Merosin-Positive Muscular Dystrophy

The second child, a 3-year-old ambulant girl with subtle learning problems, had mild cerebellar hypoplasia and a large subarachnoid space when scanned at 16 months. [ncbi.nlm.nih.gov]

hypoplasia With mental retardation and cerebellar cysts Normal Normal Normal Cerebellar hypoplasia Cerebellar cysts 1q-42 Merosin positive CMD Typical form + Mental retardation [mrineonatalbrain.com]

Cortical dysplasia, cerebellar hypoplasia, cerebellar cists and ventriculomegaly were not seen. [text-br.123dok.com]

Dysequilibrium Syndrome

cerebellar ataxia associated with cerebellar hypoplasia. [ncbi.nlm.nih.gov]

From Wikipedia, the free encyclopedia Jump to navigation Jump to search VLDLR-associated cerebellar hypoplasia Other names Dysequilibrium syndrome, DES ; Nonprogressive cerebellar [en.wikipedia.org]

An autosomal recessive syndrome of nonprogressive cerebellar ataxia and mental retardation is associated with inferior cerebellar hypoplasia and mild cerebral gyral simplification [ncbi.nlm.nih.gov]

Lissencephaly

A newborn with a rare type of lissencephaly is reported, characterized by extreme cerebral and cerebellar hypoplasia. [ncbi.nlm.nih.gov]

We report on 2 families with diffuse pachygyria and cerebellar hypoplasia, who presented hypotonia, ataxia, seizures, and developmental delay since infancy. [candicelange.com]

Cerebellar hypoplasia is often associated with type 2 lissencephaly; however, our cases showed no polymicrogyria, and their clinical findings were quite mild compared with [candicelange.com]

Spinocerebellar Ataxia Type 15

CONCLUSION: Autosomal dominant congenital nonprogressive cerebellar ataxia with or without cerebellar hypoplasia overlaps with the SCA15 locus on chromosome 3pter [2]. [wikigenes.org]

Clinical features of developmental disability associated with cerebellar hypoplasia. Pediatr Neurol. 1996;15:224–9. [ojrd.biomedcentral.com]

Non-progressive congenital ataxia with or without cerebellar hypoplasia: a review of 34 subjects. Dev Med Child Neurol. 1998;40:148–54. [ojrd.biomedcentral.com]

Amish Lethal Microcephaly

Showing of 33 | 80%-99% of people have these symptoms Cerebellar vermis hypoplasia 0001320 Death in infancy Infantile death Lethal in infancy [ more ] 0001522 Feeding difficulties [rarediseases.info.nih.gov]

hypoplasia. [jhu.pure.elsevier.com]

hypoplasia XLD 18 CDK5RAP2 608201 primary microcephaly 3 AR 12 CDK6 603368 autosomal recessive microcephaly, 12 AR 0 CENPE 117143 autosomal recessive microcephaly, 13 AR [centogene.com]

Bonnemann-Meinecke-Reich Syndrome

HYPOPLASIA; MICPCH Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) is an X-linked disorder affecting females and characterized by severe [mendelian.co]

[…] abscess, Cerebellar ataxia, Cerebellar cortex atrophy, Cerebellar degeneration, Cerebellar haemorrhage, Cerebellar heredoataxia, Cerebellar hypoplasia, Cerebellar infarct [wikidoc.org]

Hypoplasia And Arthrogryposis Polyvalvular Heart Disease Syndrome Prader-Willi Syndrome Prominent Glabella-Microcephaly-Hypogenitalism Syndrome Proteus-Like Syndrome Proteus [familydiagnosis.com]

Arnold-Chiari Malformation

Type IV is a form a cerebellar hypoplasia. [hon.ch]

hypoplasia without displacement of the cerebellum through the foramen magnum probably a variation of cerebellar hypoplasia Chiari V malformation absent cerebellum herniation [radiopaedia.org]

[…] of the occipital lobe through the foramen magnum Chiari 0 malformation syrinx without cerebellar tonsillar or brain stem descent infrequently used and confusing term to be [radiopaedia.org]

Aprosencephaly and Cerebellar Dysgenesis

This article is about human cerebellar hypoplasia. For cerebellar hypoplasia in other animals, see cerebellar hypoplasia (non-human). [en.wikipedia.org]

hypoplasia. [link.springer.com]

Hypoplasia And Distinctivefacial Appearance Microcephaly, Autosomal Dominant Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy Midline Malformations [familydiagnosis.com]

Adult-Onset Autosomal Recessive Cerebellar Ataxia

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2; SCAR2, Cerebellar Granular Cell Hypoplasia and Mental Retardation, Congenital, Cpd 3 Annotation Sufficiency: ? [monarchinitiative.org]

Localized cerebellar hypoplasia. Fetal coronal T2 image ( A ) shows a left-sided cerebellar hematoma ( arrow ). [ajnr.org]

Congenital ataxias are due to cerebellar hypoplasia or aplasia. [jpgmonline.com]

Severe Neonatal-Onset Encephalopathy with Microcephaly

Norman RM (1961) Cerebellar hypoplasia in Werdnig-Hoffmann disease. Arch Dis Child 36:96–101 Google Scholar 19. [link.springer.com]

Cerebellar involvement with global cerebellar hypoplasia is inconsistently present and non-specific. [cerebellumandataxias.biomedcentral.com]

Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

Related phenotypes are hyperreflexia and cerebellar hypoplasia [malacards.org]

Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease. [mendelian.co]

[…] ataxia, nonprogressive, with mental retardation Cerebellar ataxia, SNX14 related Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion Cerebral [qlinics.com]

Autosomal Recessive Primary Microcephaly Type 10

hypoplasia Neuronal loss in central nervous system Hypoplasia of the brainstem Congenital contracture Hypoplasia of the pons Infantile encephalopathy Loss of Purkinje cells [mendelian.co]

Patients with PCH5 ( OMIM ) have cerebellar hypoplasia apparent in the second trimester and show seizures. [mendelian.co]

hypoplasia-cardiac conduction defect syndrome 4 Cases 2522 Microcephaly-cervical spine fusion anomalies syndrome 2 Cases 2521 Microcephaly-cleft palate syndrome 3 Cases 423894 [azkurs.org]

Autosomal Recessive Spinocerebellar Ataxia 18

Localized cerebellar hypoplasia. Fetal coronal T2 image ( A ) shows a left-sided cerebellar hematoma ( arrow ). [ajnr.org]

QT SYNDROME 4 CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED Ataxin-1 (N76/3, N76/8) SPINOCEREBELLAR ATAXIA 1 CASK (K56A/50) MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR [neuromab.ucdavis.edu]

The patients that we describe seem to have progressive cerebellar atrophy rather than malformative cerebellar hypoplasia. [ojrd.biomedcentral.com]

Nivelon-Nivelon-Mabille Syndrome

Other reported features in the live sibling included eye anomalies, dysmorphic features, muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar [ncbi.nlm.nih.gov]

A severe form of congenital dwarfism, general chondrodysplasia, severe microcephaly with cerebellar vermis hypoplasia, hypoplastic iris, and coloboma of the optic disc. [accessanesthesiology.mhmedical.com]

mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. [orpha.net]

Myelocerebellar Disorder

[…] severe variant of DC, with the additional manifestations of cerebellar hypoplasia, microcephaly, and psychomotor retardation.4, 5, 6 Most patients with DC have very short [hiv-proteases.com]

hypoplasia Lissencephaly with cerebellar hypoplasia type A Lissencephaly with cerebellar hypoplasia type B Lissencephaly with cerebellar hypoplasia type C Lissencephaly with [se-atlas.de]

Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, and bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and [mendelian.co]

Spasmus Nutans

However, their development in a patient with cerebellar vermian hypoplasia has not been previously described. [ncbi.nlm.nih.gov]

Cerebellar vermian hypoplasia. Magnetic resonance imaging of the brain demonstrates vermian hypoplasia, especially in the inferior portion (arrowheads) (A). [jamanetwork.com]

Spasmus nutans and congenital ocular motor apraxia may develop in patients with cerebellar vermian hypoplasia. [ncbi.nlm.nih.gov]

Acrocallosal Syndrome

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

It is suggested that increased birth weight and cerebellar hypoplasia occur in acrocallosal syndrome. [ncbi.nlm.nih.gov]

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

Congenital Aplastic Anemia

[…] growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia. [wikidata.org]

Antenatal diagnosis Intrauterine growth failure and cerebellar hypoplasia can be detected by prenatal ultrasounds. [rarediseases.info.nih.gov]

(Also known as/Synonyms) Cerebellar Hypoplasia with Pancytopenia Growth Retardation Prenatal with Progressive Pancytopenia and Cerebellar Hypoplasia HHS (Hoyeraal-Hreidarsson [dovemed.com]

Pfeiffer-Palm-Teller Syndrome

Pontoneocerebellar Hypoplasia[?] Popliteal pterygium syndrome lethal type[?] Popliteal pterygium syndrome[?] Porencephaly cerebellar hypoplasia malformations[?] [encyclopedia.kids.net.au]

Popliteal pterygium syndrome lethal type Popliteal pterygium syndrome Porencephaly cerebellar hypoplasia malformations Porencephaly Porokeratosis of Mibelli Porokeratosis [bioreference.net]

* Popliteal pterygium syndrome lethal type * Popliteal pterygium syndrome * Porencephaly cerebellar hypoplasia malformations * Porencephaly * Porokeratosis of Mibelli * Porokeratosis [en.academic.ru]

Prata-Libéral-Gonçalves Syndrome

hypoplasia 49XXXXY syndrome X-linked with aplasia cutis congenita progressive pancytopenia and Charcot-Marie-Tooth per oneal cerebellar hypoplasia Prenatal muscular atrophy [yumpu.com]

Popliteal pterygium syndrome Popliteal pterygium syndrome lethal type Porencephaly cerebellar hypoplasia malformations Porokeratosis plantaris palmaris et disseminata Porokeratosis [mindmappedia.com]

Popliteal pterygium syndrome lethal type Popliteal pterygium syndrome Porencephaly cerebellar hypoplasia malformations Porencephaly Porokeratosis of Mibelli Porokeratosis [bioreference.net]

Waters-West Syndrome

[…] vermis hypoplasia Abnormality of the clavicle Prominent occiput Polymicrogyria Cerebellar hypoplasia Anteverted nares Behavioral abnormality Eczema Abnormality of the pinna [mendelian.co]

[…] and Cerebellar Hypoplasia OMIM:601160 Lissencephaly Type III and Bone Dysplasia OMIM:300067 Lissencephaly, X-Linked, 1; LISX1 OMIM:300215 Lissencephaly, X-Linked, 2; LISX2 [informatics.jax.org]

hypoplasia Renal insufficiency Delayed skeletal maturation Congenital onset Patent ductus arteriosus Clinodactyly Postnatal growth retardation Small for gestational age Visual [mendelian.co]

Developmental and Epileptic Encephalopathy Type 17

Our data expand the clinical spectrum of CASK mutations to include OS with cerebellar hypoplasia and congenital anomalies at the most severe end. [ncbi.nlm.nih.gov]

Both patients showed severe cerebellar hypoplasia along with other congenital anomalies such as micrognathia, a high arched palate, and finger anomalies. [ncbi.nlm.nih.gov]

CASK mutations have been reported in patients with intellectual disability with microcephaly and pontocerebellar hypoplasia or congenital nystagmus, and those with FG syndrome [ncbi.nlm.nih.gov]