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Shwachman-Diamond syndrome
What are the symptoms?
The digestive defects results in diarrhoea and fatty stools with fat soluble vitamin and mineral deficiency. Poor growth is an integral part of the condition in about fifty per cent of individuals. Specific skeletal defects are present including metaphyseal dysostosis and a thoracic dystrophy. Dental problems are common and can be severe. Mild to moderate learning difficulties are present as well as behavioural and feeding problems in up to fifty per cent of affected children.
Expression of the disorder is variable and ranges from mild pancreatic insufficiency to a serious life-threatening disorder. Some spontaneous improvement in symptoms may occur, usually after the age of eight years.
Recurrent infection, which may be life threatening, is due to both minor immunodeficiency and neutrophil defects. In about sixty per cent of cases, neutropenia is present and this may be cyclical. In severe cases more serious haematological disorder may occur with aplastic anaemia (anemia - US) myelodysplasia and possibly acute myeloid leukaemia. Rarely, hepatic fibrosis and ichthyotic skin lesions may occur.
Background
| How is it diagnosed? 
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