Blepharo-Cheilo-Dontic (BCD) syndrome

Robert J. Gorlin*, Hans Zellweger, M. Waziri Curtis, Hans Rudolf Wiedemann, Mette Warburg, Franz Majewski, Gabriele Gillessen-Kaesbach, Birte Prahl-Andersen, Elaine Zackai

*Corresponding author for this work
24 Citations (Scopus)


Patients with the autosomal dominant blepharo-cheilo-dontic (BCD) syndrome have ectropion of lower eyelids, distichiasis of upper eyelids, euryblepharon, bilaterally cleft lip/palate, oligodontia, and conical crown form. Initially known under the eponym 'Elschnig syndrome' (1912), BCD syndrome has been described in binary, ternary, and quaternary combination. There is overlap with the syndrome reported by Martinez et al. [1987], postaxial acrofacial dysostosis (Miller syndrome, Genee-Wiedemann syndrome), and a syndrome reported briefly by Warburg.

Original languageEnglish
JournalAmerican Journal of Medical Genetics
Issue number2
Pages (from-to)109-112
Number of pages4
Publication statusPublished - 16.10.1996

Research Areas and Centers

  • Research Area: Medical Genetics


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