Shwachman–Diamond syndrome

Also known as: SDS; Shwachman–Bodian–Diamond syndrome

Exocrine pancreatic insufficiency, neutropenia and skeletal abnormalities.

Medical specialty: Hematology
Subspecialty: Hematology / Bone marrow failure
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: DNAJC21, EFL1, SBDS, SRP54

Etiology & mechanism

Impaired ribosome maturation from SBDS deficiency.

Gene(s) involved (4)

DNAJC21EFL1SBDSSRP54

Symptoms & signs (10)

anemiafailure to thriveleukemiametaphyseal dysplasiamyelodysplasianeutropeniarecurrent infectionsshort staturesteatorrheathrombocytopenia

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