U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Primary syringomyelia

MedGen UID:
721465
Concept ID:
C1299627
Congenital Abnormality; Disease or Syndrome
Synonyms: Congenital syringomyelia; congenital syringomyelia; primary syringomyelia
SNOMED CT: Congenital syringomyelia (371076006)
 
Monarch Initiative: MONDO:0020508
Orphanet: ORPHA99856

Definition

A rare central nervous system malformation characterized by a fluid-filled longitudinally oriented cavity (syrinx) within the spinal cord, which may or may not communicate with the central canal, does not have an ependymal lining, and is either idiopathic or seen as a familial malformation. Clinical manifestations in symptomatic patients include neuropathic pain, as well as sensory and motor disturbances. Typical presentations may be cape-like loss of pain and temperature sensation along the torso and arms, or disproportionately greater motor impairment in upper compared to lower extremities. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrimary syringomyelia

Professional guidelines

PubMed

Lam S, Batzdorf U, Bergsneider M
J Neurosurg Spine 2008 Dec;9(6):581-8. doi: 10.3171/SPI.2008.10.08638. PMID: 19035753

Recent clinical studies

Etiology

Lam S, Batzdorf U, Bergsneider M
J Neurosurg Spine 2008 Dec;9(6):581-8. doi: 10.3171/SPI.2008.10.08638. PMID: 19035753

Diagnosis

Lam S, Batzdorf U, Bergsneider M
J Neurosurg Spine 2008 Dec;9(6):581-8. doi: 10.3171/SPI.2008.10.08638. PMID: 19035753
Trost HA, Seifert V, Stolke D
Neurosurg Rev 1993;16(3):205-9. doi: 10.1007/BF00304329. PMID: 8272209

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...