Older people tend toward obsessive compulsive behavior and anxiety.Įven with the above symptom lists, it can be hard to make a definitive diagnosis of CS. Behavior: Younger people are very persistent.Palm crease – A hockey-shaped or L-shaped crease in the palm is often seen.Differences in development – Early milestones like walking may be delayed.Growth deficiency – Short size due to low growth hormone levels is common.Underdeveloped labia and uterus for females. Underdeveloped genitals – Undescended testicles and small penis for males.Urinary reflux can also be found on testing. Kidney abnormalities – Underdeveloped kidneys or even an absent kidney.Esophageal atresia and tracheoesophageal fistula (TEF), H-shaped TEF.

Symptoms of CHARGE that are harder to diagnose or less specific to CHARGE:

Ears: Changes to the way the ear was put together can lead to hearing loss and balance problems.

Face: Paralysis or weakness on one or both sides of the face.

This can cause problems with swallowing, 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(s) can impact vision.

Symptoms common to CHARGE syndrome include: The below symptom lists were defined to improve the ability to detect and diagnose CS. Every individual with CS is unique, even within families where CS was inherited or happened in another pregnancy. What Are Symptoms of CHARGE Syndrome?ĭue to the wide range of findings in children with CS, the diagnosis can be hard to make. If we confirm the diagnosis, we can make sure an individual is getting the proper and proactive care they need. The point of genetic testing is always to fully understand a patient’s diagnosis. Knowing the gene change is important for an individual with features of CS because other conditions can cause the same symptoms. There are other tests that are also done if this test does not show the gene mutation. This genetic test is helpful to find out if a child has CS. If an individual has features that are suspicious for CS, a genetic test can be performed to confirm the diagnosis. If the recipe is put together differently, the machine that it makes will work differently. If the recipe is changed, the recipe is put together differently.

The recipe that makes the CHD7 protein or machine can be changed by a variant or misspelling. The CHD7 gene is an important recipe the body uses from the time of conception and throughout a person’s life. Genes can be thought of as recipes for machines the body uses to make the body and do everything the body needs to do on a daily basis. A variant or misspelling in a gene changes the way the body uses that particular gene. About two-thirds of individuals show a misspelling (or variant) of the CHD7 gene. The CHD7 gene is the most common gene affected in individuals with CS. Individuals with CS have a 50% risk of having a child also impacted by CS. It can rarely happen with about a 1% chance that a future child would be impacted by CS. 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, but families with the condition are known. They occur with each pregnancy, randomly. These are not caused by anything that a parent does or does not do. Because they happen with each pregnancy, it is only important for a person if they happen in a gene that can cause a medical condition. This means that it is a new change in the individual with CS and not inherited. Most of the time, the genetic change is present in the child but not in the parents. However, we do not find a genetic change in all individuals with features of CS. It is caused by a change or variant in at least one gene. What Causes CHARGE Syndrome?ĬS is a genetic condition. 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. 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.

Charge syndrome life span