Shwachman-Diamond syndrome

Also known as: Shwachman syndrome

Overview

Shwachman-Diamond syndrome is a rare genetic condition. Children may have a defective pancreas that fails to secrete digestive enzymes, poor growth and are prone to infection and haematological (blood) disorders. There are also bony difficulties with metaphyseal dysplasia (abnormalities of long bone growth). Thrombocytopaenia (low platelet count), is the most common blood problem, and may mean that there is an increased risk of bleeding. In around half of those affected, mild-to-moderate Learning Disability is present. Problems may be experienced with digestion, but these tend to improve as the child gets older.

Mutations in the SBDS gene have been identified in some people with the syndrome. Diagnosis requires investigation by a gastroenterologist (a specialist in problems with the gastrointestinal tract) and haematologist. Management of the condition includes pancreatic enzyme replacement and multi-vitamin supplements. Antibiotics may be given to prevent infection and increased when infections occur. Bone problems may need to be assessed by an orthopaedic specialist (a specialist in bone problems). As this is a genetic condition, affected families should be referred to a genetics centre for information and advice.

This overview is intended to be a basic description of the condition. It is not intended to replace specialist medical advice. We advise that you discuss your child’s case with a qualified medical professional who will be able to give you more detailed information.

Credits

Medical text approved December 2012 by Dr Jenny Fisken (retired), formerly Associate Specialist in Community Paediatrics, North Yorkshire and York PCT.

Is there support?

There is no support group for Shwachman-Diamond syndrome in the UK.

Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. To meet other families with disabled children, join Contact’s closed (private) Facebook group.