Oral-facial-digital syndrome with Y-shaped fourth metacarpals and endocardial cushion defect

Yu Chia Hsieh, Jia Woei Hou*

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

23 Scopus citations


We report on a boy with pseudo-cleft of the upper lip, cleft palate, bifid uvula, lobulated tongue, hypoplasia of the epiglottis, both preaxial and central polydactyly of the hands (Y-shaped fourth metacarpals), bilateral preaxial polydactyly of the feet, postaxial polydactyly of the left foot, hearing impairment, and congenital heart disease with endocardial cushion defect. These clinical manifestations resembled oral-facial-digital syndrome type II (OFDS II, Mohr syndrome) or type VI (Varadi syndrome), associated with an atrioventricular canal. Clinical variability of OFDS II has been observed repeatedly. To the best of our knowledge, this is the first reported case of OFDS II with Y-shaped fourth metacarpals. In addition to Y-shaped fourth metacarpals, Mohr syndrome plus atrioventricular canal and hypoplasia of the epiglottis may represent an additional subgroup of OFDS.

Original languageEnglish
Pages (from-to)278-281
Number of pages4
JournalAmerican Journal of Medical Genetics
Issue number3
StatePublished - 1999
Externally publishedYes


  • Endocardial cushion defect
  • Lobulated tongue
  • Oral-facial-digital syndrome
  • Polydactyly
  • Y-shaped metacarpal


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