Which clinical history 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 (SDS) typically present with diarrhea, short stature, weight loss, and dry skin (eczema).

    • They may have fatty stools that usually improve with age. [43]

    • Imperforate anus and Hirschsprung disease have been associated with Shwachman-Diamond syndrome. These associations may delay diagnosis of Shwachman-Diamond syndrome because the presenting symptom is constipation and not diarrhea.

  • 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]

  • Hearing loss may occur secondary to recurrent otitis media.

  • A history of pallor, easy bruising, epistaxis, melena, hematemesis, or hematuria may be present in individuals with Shwachman-Diamond syndrome.

  • Unlike patients with cystic fibrosis, patients with Shwachman-Diamond syndrome have a paucity of pulmonary symptoms, [44] although some patients may present with recurrent upper and lower respiratory tract infections.

  • Delayed dental development, gingival bleeding upon brushing, and pain with eating (associated with recurrent oral ulcerations) may occur. [45]

  • Saliva production is decreased; however, no significant clinical symptoms are associated with this phenomenon.

  • Patients with Shwachman-Diamond syndrome typically experience delayed puberty. [10]

  • Mild-to-moderate psychomotor and/or developmental delay including attention deficit hyperactivity disorder (ADHD) and autism spectrum disorders may be observed in as many as 15% of affected individuals and has been shown to affect quality of life. [24]

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