Hunter Macdonald syndrome

Overview

Type of disease: Rare conditions

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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