Walker-Warburg syndrome

Last revised by Marcos Gil Alberto da Veiga on 4 Aug 2019

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

Additional anomalies include:

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

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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