Cerebellar Hypoplasia Causes & Reasons

Neu starten

Ad Html Headline Ad Text Headline

Ad Label Ad Html Description Ad Text Description

Determine your risk of now. Restart test

Caution! In case of an emergency:

Seek emergency care

Caution! In case of an emergency: Seek emergency care

Hi, I'm Symptoma.

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

For full functionality of this site it is necessary to enable JavaScript.

How to enable JavaScript?

Patient File

Sex unknown, Age unknown

Reported Symptoms

Cerebellar Hypoplasia,

Negated

None

Unsure

None

Possible Causes

Hoyeraal-Hreidarsson Syndrome

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

Hoyeraal-Hreidarsson (HH) syndrome is a multisystem disorder affecting boys characterized by aplastic anaemia (AA), immunodeficiency, microcephaly, cerebellar-hypoplasia and [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]

Show info

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]

Show info

PHACE Syndrome

We report a child presenting with a triad of congenital third nerve palsy, cerebellar hypoplasia and facial capillary hemangioma. [ncbi.nlm.nih.gov]

The most common structural brain defects were cerebellar hypoplasia (25%) and fourth ventricle abnormalities (13%). [ncbi.nlm.nih.gov]

Show info

Dysequilibrium Syndrome

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]

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

[…] recessive cerebellar hypoplasia with cerebral gyral simplification. 24 56 6 Boycott KM...Parboosingh JS 16080122 2005 5 Missense mutation in the ATPase, aminophospholipid [malacards.org]

Show info

Arnold-Chiari Malformation Type 1

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]

Show info

Lissencephaly

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

A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema. Neuropediatrics 24, 43–46 ( 1993). 15 DeSilva, U. et al. [doi.org]

Point mutations in the RELN gene have been shown to cause an autosomal recessive human brain malformation termed lissencephaly with cerebellar hypoplasia (LCH). [ncbi.nlm.nih.gov]

Show info

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]

Show info

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]

Some authors reported many structural encephalic malformations among patients with CMD, such as cortical dysplasia, cerebellar hypoplasia, cerebellar cists and ventriculomegaly4,8 [tiptiktak.com]

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]

Show info

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]

Show info

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]

Vermian hypoplasia was present in 36 (88%) cases, while cerebellar hypoplasia was documented in 27 (59%) of these patients. [ncbi.nlm.nih.gov]

Show info

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 Small cerebellum Underdeveloped cerebellum [ more ] 0001321 Congenital onset Symptoms present at birth 0003577 Flexion contracture Flexed joint that cannot be [rarediseases.info.nih.gov]

Show info

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]

Show info

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]

Show info

Mega-Cisterna Magna

[…] magna is closely related to cerebellar hypoplasia. [fetalultrasound.com]

Differential diagnosis includes Dandy-Walker malformations and variants, cerebellar hypoplasia, posterior fossa arachnoid cyst, and epidermoid cysts. [radiopaedia.org]

The following abnormalities were detected: 3 (37.5%) cerebellar hypoplasia, 2 (25%) partial dysgenesis of corpus callosum, 2 (25%) cases were confirmed as MCM and 1 (12.5% [pafmj.org]

Show info

Arnold-Chiari Malformation Type 2

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

Show info

Congenital Non-Progressive Ataxia

Clinical evaluation showed bilateral superior coloboma, foveal hypoplasia, and inferior cerebellar hypoplasia. [ncbi.nlm.nih.gov]

In many cases, neuroimaging studies (CT scan, MRI) show cerebellar hypoplasia or atrophy, especially of the vermis, with occasional white matter changes, and diffuse atrophy [orpha.net]

The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is [ncbi.nlm.nih.gov]

Show info

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]

Show info

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]

Show info

Pfeiffer-Palm-Teller Syndrome

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

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 [en.academic.ru]

Show info

Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

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

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

Show info

Spasmus Nutans

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

@article{Kim2003SpasmusNA, title {Spasmus nutans and congenital ocular motor apraxia with cerebellar vermian hypoplasia.}, author {Ji Soo Kim and Sung-Ho Park and Kwang-Woo [semanticscholar.org]

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

Show info

Arnold-Chiari Malformation

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

[…] structures Hydrocephalus in 50% of cases due to obstruction Chiari IV (very rare) Primary cerebellar hypoplasia or agenesis Epidemiology Prevalence True incidence is estimated [unboundmedicine.com]

[…] bifida, myelomeningocele, and dysgenesis of the corpus callosum ( 3 ) Chiari III malformations (rare): Small posterior fossa with an associated encephalocele containing the cerebellar [unboundmedicine.com]

Show info

X-Linked Spinocerebellar Ataxia Type 5

This is the first example of the genetic mapping of a pure congenital cerebellar hypoplasia syndrome. [ncbi.nlm.nih.gov]

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

hypoplasia Andrea Poretti and Eugen Boltshauser (Zurich, Switzerland) Pontine tegmental cap dysplasia Andrea Poretti (Zurich, Switzerland) Non-progressive cerebellar ataxia [deutscher-apotheker-verlag.de]

Show info

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]

Show info

Kohlschütter-Tönz Syndrome

The signs and symptoms of Kohlschütter-Tönz Syndrome may include: Ataxia Cerebellar hypoplasia Cerebral atrophy Epileptic encephalopathy Hypoplasia of dental enamel Hypsarrhythmia [dovemed.com]

hypoplasia Small cerebellum Underdeveloped cerebellum [ more ] 0001321 Cerebral atrophy Degeneration of cerebrum 0002059 Epileptic encephalopathy 0200134 Hypoplasia of dental [rarediseases.info.nih.gov]

[…] body height Small stature [ more ] 0004322 Percent of people who have these symptoms is not available through HPO Ataxia 0001251 Autosomal recessive inheritance 0000007 Cerebellar [rarediseases.info.nih.gov]

Show info

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]

Show info

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]

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

Show info

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]

Show info

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]

Show info

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]

Show info

⚕ Symptoma®️ is a digital health assistant but no replacement for the opinion and judgement of medical professionals. By using this website you fully understand and accept that it shall not be used as a diagnostic system for decision-making. It absolutely must not be used to obtain, replace or overrule a clinical diagnosis by a healthcare professional. It is always for the medical professional to make the final diagnosis. The medical information provided on this website is of a general nature and can not substitute for the advice of a medical professional (for example, a qualified doctor or physician)! Information from the internet could and should NOT be solely used to offer or render a medical opinion or otherwise engage in the practice of medicine.

[v-cloak]:not(.noscript-hide) { display: block; }