An infant with large fontanelles, aplasia cutis congenita, tessier facial cleft, polydactyly inversus, and toe syndactyly: A previously undescribed syndrome?

Jessica Jackson, Paula Delk, Emily Farrow, Christopher Griffith, Melissa Lah, David D. Weaver

Research output: Contribution to journalArticle


We report on a 5-month-old female with large and widely spaced anterior and posterior fontanelles, aplasia cutis congenita, Tessier 3 oblique facial cleft, polydactyly, and syndactyly of toes. The polydactyly is unusual as an accessory finger is attached to the left fifth finger with mirrored, end-to-end fusion. We are naming this anomaly "polydactyly inversus." The infant appears to have a previously unreported syndrome of unknown cause.

Original languageEnglish (US)
Pages (from-to)683-687
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Issue number4
StatePublished - Apr 1 2015



  • Aplasia cutis congenita
  • Large fontanelles
  • Polydactyly inversus
  • Tessier 3 oblique facial cleft
  • Toe syndactyly

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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