Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988

Am J Med Genet Suppl. 1990;6:3-16. doi: 10.1002/ajmg.1320370603.


This presentation records the early history of the description of the broad thumb-hallux syndrome and attempts to update the current state of knowledge about this syndrome. Information was collected and reviewed on 571 individuals from the world literature, from communications with colleagues and families of affected individuals, and from personal observation. The diagnosis was established in most cases by confirming the concurrence of the constellation of major diagnostic criteria, including broad short terminal phalanges of the thumbs and halluces, with or without angulation deformity; characteristic facial appearance with beaked or straight nose, antimongoloid slant of palpebral fissures, apparent or clinical hypertelorism and grimacing smile; stature and head circumference (OFC) below 50th centile; mental, motor, social, and language retardation; stiff awkward gait; and incomplete or delayed descent of testes in males. Information on associated clinical factors, familial occurrence, and cytogenetic findings is presented.

Publication types

  • Historical Article
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Abnormalities, Multiple / history*
  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • History, 20th Century
  • Humans
  • Incidence
  • Infant
  • Infant, Newborn
  • Karyotyping
  • Male
  • Middle Aged
  • Prevalence
  • Rubinstein-Taybi Syndrome / diagnosis
  • Rubinstein-Taybi Syndrome / epidemiology
  • Rubinstein-Taybi Syndrome / genetics
  • Rubinstein-Taybi Syndrome / history*