Mowat Wilson syndrome: systemic features

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Mowat Wilson syndrome: systemic features. Patent ductus arteriosus (PDA), Pulmonary stenosis and atresia. Fully referenced neurology checklist.

Congenital heart defects

  • Patent ductus arteriosus (PDA)
  • Pulmonary stenosis and atresia
  • Ventricular septal defect (VSD)
  • Atrial septal defect (ASD)
  • Tetralogy of Fallot (TOF)
  • Coarctation of the aorta
  • Aortic and mitral valve anomalies

Ocular abnormalities

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Urogenital abnormalities

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Gastrointestinal abnormalities

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Skeletal abnormalities

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References

  1. Garavelli L, Mainardi PC. Mowat-Wilson syndrome. Orphanet J Rare Dis 2007; 2:42. 
  2. Garavelli L, Zollino M, Mainardi PC, et al. Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature. Am J Med Genet A 2009; 149A:417-426. 
  3. Ivanovski I, Djuric O, Caraffi SG, et al. Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care. Genet Med 2018; doi: 10.1038/gim.2017.221 (Epub ahead of print).
  4. Ricci E, Fetta A, Garavelli L, et al. Further delineation and long-term evolution of electroclinical phenotype in Mowat Wilson Syndrome. A longitudinal study in 40 individuals. Epilepsy Behav 2021 (Online ahead of print).
  5. Bourchany A, Giurgea I, Thevenon J, et al. Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome. Am J Med Genet A 2015; 167:1587-1592. 
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