Face: Paralysis or weakness on one or both sides.This can cause problems swallowing and breathing, and choking. Throat: Passages that go from the back of the nose to the throat can be narrow (stenosis) or blocked (atresia).Eyes: A coloboma (missing piece of the eye) in some parts of the eye (including the iris or colored part of the eye), small eyes or missing eye can impact vision.Symptoms common to CHARGE syndrome include: The below symptom lists were defined to improve the ability to detect and diagnose CS.
What Are Symptoms of CHARGE Syndrome?ĭue to the wide range of findings in children with CS, the diagnosis can be hard to make. There are other tests that are also done if this test does not show the gene mutation. This gene test is helpful to find out if a child has CS. The CHD7 gene is the most common gene affected in children with CS. About two-thirds of children showing an abnormality (or mutation) of the CHD7 gene. It is not common for families to have more than one child with CS. It is very rare to have a family history of CS. Most of the time, this is present in the child but not in the parents. It is caused by a change or mutation in at least one gene. Having a good understanding of the issues and the supports for children and families can help children with CS reach their potential and have a great quality of life.ĬS is a genetic condition. The medical challenges for children with CS can seem overwhelming and hard to manage. Vision and hearing difficulties (CS is the leading cause for babies born deaf and blind).Laryngomalacia (underdevelopment of the upper airway causing breathing problems).Many other conditions can be linked with CS such as: Ear and hearing anomalies (thus the acronym CHARGE).Atresia of the nasal choanae (connection between the back of the nose and throat).Colobomas (a hole in the structures of the eye).CS is a very complex syndrome which often involves: It is rare and affects one in each 150,000 births worldwide. CHARGE syndrome (CS) refers to a pattern of birth defects with a wide range of conditions that can differ from child to child.
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