What are the signs and symptoms 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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Answer

Patients with SDS typically present with diarrhea, short stature, weight loss, and dry skin (eczema). Recurrent bacterial infections of the upper respiratory tract, otitis media, sinusitis, pneumonia, osteomyelitis, bacteremia, skin infections, aphthous stomatitis, fungal dermatitis, and paronychia are common because of a neutropenia/neutrophil migration defect. [5, 6, 7, 8]

In addition to short stature, skeletal abnormalities in an individual with SDS may include the following:

  • Clinodactyly

  • Syndactyly

  • Supernumerary metatarsals

  • Coxa vara deformity

  • Genu and cubitus valgus

  • Tooth enamel defects (dental dysplasia) [9]

Along with eczema, dermatologic manifestations in patients with SDS include ichthyosis and petechiae.

As with other bone marrow failure syndromes, a predilection for developing severe cytopenias, myelodysplastic syndrome (MDS), and leukemia is observed with SDS.


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