Widened cerebellar subarachnoid space

MedGen UID:: 868340
•Concept ID:: C4022734
•: Anatomical Abnormality

HPO:	HP:0012765

Definition

An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVWidened cerebellar subarachnoid space

Congenital Systemic Disorder
- Abnormality of the nervous system
  - Abnormal nervous system morphology
    - Morphological central nervous system abnormality
      - Abnormal subarachnoid space morphology
        Widened subarachnoid space
        Widened cerebellar subarachnoid space

Conditions with this feature

Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis

MedGen UID:: 1780157
•Concept ID:: C5543257
•: Disease or Syndrome

SHILCA is characterized by early-onset retinal degeneration in association with sensorineural hearing loss, short stature, vertebral anomalies, and epiphyseal dysplasia, as well as motor and intellectual delay. Delayed myelination, leukoencephalopathy, and hypoplasia of the corpus callosum and cerebellum have been observed on brain MRI (Bedoni et al., 2020).

See: Condition Record

Spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis