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Port-wine nevi-mega cisterna magna-hydrocephalus syndrome

MedGen UID:
1682989
Concept ID:
C5191040
Disease or Syndrome
Synonyms: Nova syndrome; nova syndrome; Port-wine nevi, mega cisterna magna, hydrocephalus syndrome; port-wine nevi-mega cisterna magna-hydrocephalus syndrome
SNOMED CT: Port-wine nevi, mega cisterna magna, hydrocephalus syndrome (783701002); Nova syndrome (783701002)
 
Monarch Initiative: MONDO:0100367
Orphanet: ORPHA2703

Definition

A rare developmental defect during embryogenesis syndrome with characteristics of glabellar capillary malformation, congenital communicating hydrocephalus and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPort-wine nevi-mega cisterna magna-hydrocephalus syndrome

Recent clinical studies

Etiology

Atis A, Ozdemir G, Tuncer G, Cetincelik U, Goker N, Ozsoy S
J Obstet Gynaecol Res 2012 Nov;38(11):1331-4. Epub 2012 May 21 doi: 10.1111/j.1447-0756.2012.01867.x. PMID: 22612590

Diagnosis

Atis A, Ozdemir G, Tuncer G, Cetincelik U, Goker N, Ozsoy S
J Obstet Gynaecol Res 2012 Nov;38(11):1331-4. Epub 2012 May 21 doi: 10.1111/j.1447-0756.2012.01867.x. PMID: 22612590

Prognosis

Atis A, Ozdemir G, Tuncer G, Cetincelik U, Goker N, Ozsoy S
J Obstet Gynaecol Res 2012 Nov;38(11):1331-4. Epub 2012 May 21 doi: 10.1111/j.1447-0756.2012.01867.x. PMID: 22612590

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