W syndrome: report of three cases and review

Am J Med Genet. 1999 Dec 22;87(5):446-9.


Only three cases of W syndrome have been reported. These patients have a typical "pugilistic" face, incomplete oral cleft, absent upper incisors, mental retardation, spasticity, seizures, and acne scars. Two of them had additional skeletal anomalies. Here we report on three male patients with findings compatible with the W syndrome. We emphasize the importance of some constant findings and describe additional signs. Familial history supports X-linked dominant heredity, as postulated previously.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adolescent
  • Adult
  • Bone and Bones / abnormalities*
  • Child
  • Cleft Lip / genetics
  • Cleft Palate / genetics
  • Developmental Disabilities / genetics
  • Facies*
  • Genes, Dominant
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Phenotype
  • Syndrome
  • Tooth Abnormalities / genetics*
  • X Chromosome