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Walker Warburg Syndrome

Abstract

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NORD is very grateful to Christopher A. Walsh, MD, PhD, Chief, Division of Genetics, Children's Hospital Boston, Bullard Professor of Neurology and Pediatrics; M.Chiara Manzini, PhD and Brenda Barry, MS, CGC, Genetic Counselor and Research Coordinator, from Children's Hospital Boston, Harvard Medical School, for assistance in the update and preparation of this report.

Synonyms of Walker Warburg Syndrome

  • cerebroocular dysgenesis (COD)
  • cerebroocular dysplasia-muscular dystrophy syndrome (COD-MD syndrome)
  • Chemke syndrome congenital muscular dystrophy-
  • dystroglycanopathy type A [with brain and eye anomalies] (MDDGA)
  • hydrocephalus, agyria, and retinal dysplasia (HARD syndrome)
  • Pagon syndrome
  • Warburg syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Summary
Walker-Warburg syndrome (WWS) is a rare multisystem disorder characterized by muscle, brain and eye abnormalities, often leading to death in the first weeks of life. However, the specific symptoms and severity of WWS can vary greatly from case to case. The most consistent features are (1) a smooth appearance of the surface of the brain due to lack of normal folding pattern (lissencephaly or agyria), often with malformations of other brain structures including the cerebellum and brain stem, (2) various developmental abnormalities of the eye and (3) progressive degeneration and weakness of the voluntary muscles which is called congenital muscular dystrophy. WWS demonstrates autosomal recessive inheritance, with a recurrence risk of 1 in 4 or 25% for a couple who has previously had a child diagnosed with this genetic condition.

Introduction
WWS is a severe form of the broader spectrum of conditions referred to as CMD (congenital muscular dystrophy), which is a group of disorders characterized by weakness and atrophy of various voluntary muscles of the body. Approximately 30 different disorders make up the muscular dystrophies. These disorders affect different muscles, may or may not have other body systems involved, and have different ages of onset, severity and inheritance patterns. The disorder was first reported in the medical literature in 1942.

Walker Warburg Syndrome Resources

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