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Contact the study team using the details below to take part. If there are no contact details below please ask your doctor in the first instance.
Dr
Alison
Foster
alison.foster10@nhs.net
Dr
Alison
Foster
alison.foster10@nhs.net
Jonathan
Hoffman
jonathanhoffman@nhs.net
Other congenital malformations
This information is provided directly by researchers, and we recognise that it isn't always easy to understand. We are working with researchers to improve the accessibility of this information. In some summaries, you may come across links to external websites. These websites will have more information to help you better understand the study.
Overgrowth disorders are a group of rare genetic conditions that cause children to be larger than others of the same age. They are associated with a wide spectrum of medical problems, including learning disability, congenital abnormalities, and in some cases an increased risk of developing tumours. Overgrowth disorders are genetic, either inherited from a parent or occurring for the first time in a child, and lifelong.
The medical complications, prognosis and recurrence risks for an individual with overgrowth are determined by the underlying cause, and achieving a diagnosis enables optimal care to be provided. In recent years a number of novel genes have been identified, but the clinical course of these conditions is not yet known and access to genetic testing is limited. Even in individuals with a diagnosis of a relatively well known condition, the clinical features can differ from expected, suggesting the existence of genetic modifying factors. There are also many individuals who do not have a clinical or molecular diagnosis, indicating that there are other novel causes of overgrowth yet to be discovered.
This project will study many individuals with overgrowth disorders. Data including history and examination, complications, laboratory investigations, imaging, clinical photography and molecular genetic data will be recorded in detail and held on an access controlled secure public database managed by the NIHR Rare Diseases Translational Research Collaboration.
The aim of this study is to
a) understand the clinical course of overgrowth disorders
b) investigate the underlying genetic causes of overgrowth
c) study the associations between genetic causes and clinical features in individuals with overgrowth
Understanding the genetic basis of these disorders may also help identify molecular genetic targets for potential future therapeutic interventions.
Start dates may differ between countries and research sites. The research team are responsible for keeping the information up-to-date.
The recruitment start and end dates are as follows:
Observational type: Cohort study;
You can take part if:
You may not be able to take part if:
1.Individuals with a clinical diagnosis of a genetic condition causing tall stature or increased head circumference that is not considered to be a primary overgrowth disorder (eg connective tissue disorder such as Marfan syndrome). 2.Individuals with tall stature or increased head circumference due to a secondary cause, for example an acquired hormonal condition such as acromegaly. 3.Individuals who do not give consent for participation in the study.
Below are the locations for where you can take part in the trial. Please note that not all sites may be open.
Dr
Alison
Foster
alison.foster10@nhs.net
Dr
Alison
Foster
alison.foster10@nhs.net
Jonathan
Hoffman
jonathanhoffman@nhs.net
The study is sponsored by University of Birmingham and funded by NIHR Rare Diseases Translational Research Collaboration .
Your feedback is important to us. It will help us improve the quality of the study information on this site. Please answer both questions.
Read full details
for Trial ID: CPMS 19361
You can print or share the study information with your GP/healthcare provider or contact the research team directly.
