Shwachman Diamond Syndrome

Shwachman-Diamond syndrome is complex condition which affects different body functions.

The pancreas  produces less enzymes for the uptake of food. 

The bone marrow malfunctions and does not make some or all types of white blood cells. A shortage of neutrophils, the most common type of white blood cell, is called neutropenia. Most people with Shwachman-Diamond syndrome have at least occasional episodes of neutropenia, which makes them more vulnerable to infections such as pneumonia, recurrent ear infections, and skin infections

Skeletal abnormalities are another common feature of Shwachman-Diamond syndrome. Many affected individuals have problems with bone formation and growth, most often affecting the hips and knees.

Several other parts of the body, including the liver, teeth, and skin may be affected.

Shwachman-Diamond Syndrome may be also associated with delayed speech and motor development and such as sitting, standing, and walking.

Last modified
16 July 2020

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OMIM

# 260400 SHWACHMAN-DIAMOND SYNDROME 1; SDS1

ORPHA

ORPHA:811 Shwachman-Diamond syndrome

Patient Organization

Shwachman Syndrome Support Holland represents individuals with Shwachman Diamond Syndrome in the Netherlands. As most rare conditions Shwachman Diamond Syndrome is a complex disorder. First...

General Medical Guideline
In 2011 a draft SDS consensus guidelines (2011) was provided to improve health care by highlighting different aspects of SDS and facilitating early diagnosis, prevention,...
Disease
Symptom
Steatorrhea may indicate pancreas insufficiency which for example occurs in Shwachman Diamond Syndrome and Cystic Fibrosis.
Failure to thrive may indicate exocrine pancreatic insufficiency (EPI), a condition that occurs when the pancreas fails to provide the necessary amount of digestive enzymes....
Neutropenia as feature of Shwachman Diamond Syndrome Neutropenia or neutropaenia is an abnormally low concentration of neutrophils (a type of white blood cell ) in...
Metaphyseal (Chondro) Dysplasia in SDS is characterised by short stature, delayed appearance but subsequent normal development of secondary ossification centres. And by variable metaphyseal widening...
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