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 modified16 July 2020
# 260400 SHWACHMAN-DIAMOND SYNDROME 1; SDS1
ORPHA:811 Shwachman-Diamond syndrome
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