Walker-Warburg syndrome

Walker-Warburg syndrome (WWS), sometimes known as HARDE syndrome, is an extremely rare lethal form of congenital muscular dystrophy. It is primarily characterised by:

Additional anomalies include:

Genetics

It is considered by many to be inherited in an autosomal recessive manner.

MRI

Different brain abnormalities can be present, such as:

  • diffuse cobblestone cortex
  • complete absence of cerebral and cerebellar myelin
  • cerebellar polymicrogyria
  • pontine and cerebellar vermal hypoplasia
  • hydrocephalus
  • variable callosal hypogenesis

The overall prognosis is poor with most infants dying within the 1st year of life. There is no specific treatment and management is mainly supportive.

It was named after Arthur Earl Walker and Mette Warburg.

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Article Information

rID: 14654
Section: Syndromes
Synonyms or Alternate Spellings:
  • Warburg syndrome
  • Walker-Warburg syndrome (WWS)
  • HARDE syndrome
  • HARD syndrome
  • Cerebro-ocular dysplasia and muscular dystrophy
  • Cerebro-ocular dysplasia and muscular dystrophy syndrome

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