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Walker-Warburg syndrome

Thursday 16 October 2003

Definition: Walker-Warburg syndrome (WWS) is an autosomal recessive developmental disorder characterized by congenital muscular dystrophy and complex brain and eye abnormalities.

A similar combination of symptoms is presented by two other human diseases, muscle-eye-brain disease (MEB) and Fukuyama congenital muscular dystrophy (FCMD).


- craniofacial anomalies

- ocular anomalies

  • retinal detachment
  • cataract
  • microphthalmia
  • retinal malformations
  • anterior chamber malformation
  • hyperplastic primary vitreous
  • optic nerve hypoplasia
  • coloboma
  • glaucoma
  • Peters anomaly

- imperforate anus
- genital abnormalities
- renal dysplasia

- limbs

- cerebrospinal anomalies


- germline mutations in

  • the O-mannosyltransferase gene POMT1 (12369018)
  • the O-mannosyltransferase gene POMT2
  • the FKTN gene coding for fukutin (MIM.607440) (also causing the Fukuyama congenital muscular dystrophy (FCMD) - MIM.253800)