Disease class: Connective tissue diseases
Features
Failure to thrive
Congenital heart defects
Bleeding disorders
Usually normal intelligence
Genetics
Caused by a mutation in one of several genes
Usually autosomal dominant inheritance
Pathophysiology
In 70% of cases, the affected genes play a role in the Ras/mitogen activated protein kinase signaling pathways.
Complications
Leukaemia
Management
Growth hormone may help children to reach
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