Which physical exam findings are characteristic of Shwachman-Diamond syndrome (SDS)?

Updated: Nov 17, 2020
  • Author: Antoinette C Spoto-Cannons, MD, FAAP; Chief Editor: Hassan M Yaish, MD  more...
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  • Patients with Shwachman-Diamond syndrome may appear emaciated, with abdominal distension accentuated by hypotonia and hepatomegaly.

  • More than 50% of these individuals have short stature with a normal growth velocity. [8] Their height and weight are usually below the third percentile but may occasionally reach the 25th percentile. [10]

  • In addition to short stature, skeletal abnormalities in an individual with Shwachman-Diamond syndrome may include the following:

    • Clinodactyly

    • Syndactyly

    • Supernumerary metatarsals

    • Coxa vara deformity

    • Genu and cubitus valgus

    • Tooth enamel defects (dental dysplasia), including hypomaturation, hypocalcification, and hypoplasia (Dental caries and tooth surface loss are seen in about a third of patients. [9] )

  • Dermatologic manifestations in a person with Shwachman-Diamond syndrome include the following:

    • Eczema

    • Ichthyosis

    • Petechiae

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