Syndactyly



Syndactyly


Janice L. B. Byrne, MD



DIFFERENTIAL DIAGNOSIS


Common



  • Syndromic Syndactyly



    • Apert Syndrome


    • Carpenter Syndrome


    • Triploidy


    • Pfeiffer Syndrome


    • Smith-Lemli-Opitz Syndrome


  • Non-Syndromic Syndactyly



    • Amniotic Band Syndrome


    • Familial


Less Common



  • Diabetic Embryopathy


Rare but Important



  • Greig Cephalopolysyndactyly


  • Ectrodactyly


ESSENTIAL INFORMATION


Key Differential Diagnosis Issues



  • Are there associated limb anomalies?


  • Are there other structural anomalies?


  • Abnormal calvarium/craniosynostosis?


  • Evidence of amniotic bands?


  • Is there growth restriction (IUGR)?


  • Must look carefully



    • Syndactyly is frequently missed by prenatal ultrasound


Helpful Clues for Common Diagnoses



  • Syndromic Syndactyly



    • Apert Syndrome



      • “Mitten” syndactyly of hands and feet


      • Acrocephaly


    • Carpenter Syndrome



      • Craniosynostosis


      • Brachydactyly with clinodactyly, camptodactyly and syndactyly


    • Triploidy



      • Classic 3-4 syndactyly of the hands


    • Pfeiffer Syndrome



      • Craniosynostosis/cloverleaf skull


      • Complex partial syndactyly of hands, feet


    • Smith-Lemli-Opitz Syndrome



      • 2-3 toe syndactyly


  • Non-Syndromic Syndactyly



    • Amniotic Band Syndrome



      • Distal digits “stuck” together by bands


      • Actual band may be difficult to see


      • May cause amputations & “slash” defects


    • Familial



      • 2-3 toe syndactyly


Helpful Clues for Less Common Diagnoses



  • Diabetic Embryopathy



    • Preaxial polydactyly & multiple anomalies


Helpful Clues for Rare Diagnoses

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Aug 10, 2016 | Posted by in OBSTETRICS | Comments Off on Syndactyly

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