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Isolated unilateral hemispheric cerebellar hypoplasia

MedGen UID:
1638819
Concept ID:
C4707885
Congenital Abnormality
Synonym: isolated unilateral hemispheric cerebellar hypoplasia
SNOMED CT: Isolated unilateral hemispheric cerebellar hypoplasia (766934006)
 
Monarch Initiative: MONDO:0017112
Orphanet: ORPHA269218

Definition

A rare non-syndromic cerebellar malformation with characteristics of loss of volume in the right or left cerebellar hemisphere, with intact vermis and no other neurological anomalies (normal cerebral hemispheres, fourth ventricle, pons, medulla and midbrain). Patients may be asymptomatic or may present developmental and speech delay, hypotonia, abnormal ocular movements, persistent headaches and/or peripheral vertigo and ataxia. Neurological examination is otherwise normal. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Isolated unilateral hemispheric cerebellar hypoplasia

Recent clinical studies

Etiology

Pinchefsky EF, Accogli A, Shevell MI, Saint-Martin C, Srour M
Dev Med Child Neurol 2019 Mar;61(3):350-358. Epub 2018 Oct 15 doi: 10.1111/dmcn.14059. PMID: 30320441

Diagnosis

Chatur C, Balani A, Vadapalli R, Murthy MG
Can J Neurol Sci 2019 Nov;46(6):760-761. doi: 10.1017/cjn.2019.249. PMID: 31352912

Prognosis

Pinchefsky EF, Accogli A, Shevell MI, Saint-Martin C, Srour M
Dev Med Child Neurol 2019 Mar;61(3):350-358. Epub 2018 Oct 15 doi: 10.1111/dmcn.14059. PMID: 30320441

Clinical prediction guides

Pinchefsky EF, Accogli A, Shevell MI, Saint-Martin C, Srour M
Dev Med Child Neurol 2019 Mar;61(3):350-358. Epub 2018 Oct 15 doi: 10.1111/dmcn.14059. PMID: 30320441

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