Hunter Macdonald syndrome

Common Name(s)

Hunter Macdonald syndrome

Hunter Macdonald syndrome is rare collection of birth defects, or a syndrome, disorder characterized by short stature (shorter than average height), head, neck and facial abnormalities, hearing loss, vision difficulties (near-sightedness or myopia), skeletal abnormalites, heart and circulatory defects (problems with blood circulation), as well as abnormalities of the hands and feet. In at least one family, it appears to be inherited (or passed through family members) in an autosomal dominant manner. We inherit our genes in pairs, one from each parent typically. Our genes are what control the growth, development and function of our bodies. If a mistake or error occurs in a gene, it can cause problems. Autosomal dominant means that although there are two copies of each gene in almost every cell, only one of the copies has to have the changes or mutations to cause the symptoms. Many times this type of condition will run in families, and if one parent has the condition there is a 50% chance their child will have it too. However, sometimes the mutation or change is sporadic or new (de novo), meaning it occurred when the egg or sperm was being made and therefore neither parent has the condition, but it occured new in the child. The individual with the condition has a 50% chance of passing it to their own children.

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Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hunter Macdonald syndrome" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hunter Macdonald syndrome" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hunter Macdonald syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.