CHARGE Syndrome

What is CHARGE Syndrome?

CHARGE is a difficult syndrome to deal with. It disrupts each and every body part. The diagnosis is just as difficult, because in some cases the DNA change isn't even detectable. And CHARGE doesn't just affect one body organ, it attacks them all! It affects many body systems that other syndromes and diseases do too, so the geneticist has to be very careful, because in some cases, CHARGE can look like something totally different. This is one complex syndrome!

Characteristics:

Lots of infections, fluid in the ears, Underdeveloped muscles, short neck, Absent or extra fingers, seizure prone, Thymus/parathyroid abnormality, Small/missing thymus, decreased immune system, umbilical hernia, nipple abnormalities, heart defects, Cleft lip/palate, TE fistula problems, Kidney abnormalities, Genital abnormalities, Growth & hormone deficiency, short stature, CHARGE Face {Square face with broad forehead, arched eyebrows, large eyes, ptosis (droopy lids), thick nostrils, flat midface, small mouth & chin, Facial asymmetry} Palm crease, CHARGE Behavior {Perseverative behavior in younger individuals, obsessive compulsive behavior (OCD) in older individuals} eye complications, Cranial nerve abnormalities, Difficulty smelling, Swallowing difficulties, aspiration, Facial palsy, ear problems/complications, balance problems

Who Is Affected By CHARGE?

Mostly newborns are affected. It occurs in approximately 1 in 8,500 to 10,000 individuals. Being diagnosed with this syndrome is not related to sex, race, nationality, religion, or social/economical status. No matter who gets it, it could be life-threatening, but majority in the neonatal period.

What Causes CHARGE?

It is inherited in an autosomal pattern, which means one copy of the altered gene in each cell is dominant. Most cases result from new mutations in the CHD7 gene and occur in people with no history of the disorder in their family. In rare cases, an affected person inherits the mutation from an affected parent. The syndrome is caused by the deletion mutation. The deletion occurs on Gene CHD7, located on the long arm on chromosome #8. It is not caused by any type of exposure during pregnancy.

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Treatments for CHARGE?

Medication is currently not a component for this syndrome. There are some educational therapies to help control it better. Other than that, there is really no help nor cure.