Shwachman syndrome


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Shwach·man syn·drome

(shwahk'măn), [MIM*260400]
an autosomal recessive disorder characterized by sinusitis, bronchiectasis, pancreatic insufficiency resulting in malabsorption, neutropenia with defect in neutrophile chemotaxis, short stature, and skeletal changes with radiographic findings of metaphysial flaring of long bones.

Shwach·man syn·drome

(shwahk'măn), [MIM*260400]
an autosomal recessive disorder characterized by sinusitis, bronchiectasis, pancreatic insufficiency resulting in malabsorption, neutropenia with defect in neutrophile chemotaxis, short stature, and skeletal changes with radiographic findings of metaphysial flaring of long bones.

Shwachman syndrome

A condition characterized by pancreatic atrophy, neutropenia, growth failure, metaphyseal defects, hepatitis, anemia, thrombocytopenia, myocardial lesions–myofiber fragmentation, round cell inflammation, and fibrosis

Shwachman,

Harry, U.S. pediatrician, 1910-1986.
Shwachman syndrome - an autosomal recessive disorder characterized by sinusitis, bronchiectasis, pancreatic insufficiency, neutropenia, short stature, and skeletal changes, with radiographic findings of metaphyseal flaring of the long bones. Synonym(s): Shwachman-Diamond syndrome
Shwachman-Diamond syndrome - Synonym(s): Shwachman syndrome

Shwach·man syn·drome

(shwahkmăn sindrōm) [MIM*260400]
Disorder characterized by sinusitis, bronchiectasis, pancreatic insufficiency resulting in malabsorption, neutropenia with defect in neutrophile chemotaxis, short stature, and skeletal changes.
References in periodicals archive ?
Sam, of Northwich, Cheshire, suffers from Shwachman Syndrome, which means he has little resistance to leukaemia.
An inherited defect of neutrophil mobility in Shwachman syndrome.
To make a definitive diagnosis of Gaucher disease, assays for acid [Beta]-glucosidase activity in white blood cells or fibroblasts must be performed, because Gaucher-like cells may be found in patients with other conditions, such as chronic myeloproliferative disorders, chronic dyserythropoietic anemias, thalassemia, Shwachman syndrome (overloading of normal enzymatic capacity to process normal cell breakdown), or other malignant conditions.