Is CHARGE syndrome life threatening?

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Is CHARGE syndrome life threatening?

The pattern of malformations varies among individuals with this disorder, and the multiple health problems can be life-threatening in infancy. Affected individuals usually have several major characteristics or a combination of major and minor characteristics.

Is CHARGE syndrome a rare disease?

CHARGE syndrome is a rare disorder, affecting 0.1-1.2/10,000 live births. It affects males and females in equal numbers and has been seen in all races and on every continent. There are far more cases of CHARGE than those described in the medical literature.

What organ systems are affected by CHARGE syndrome?

CHARGE syndrome (OMIM #214800) is a congenital disorder that affects several organ systems with variable severity and includes coloboma of the eye, heart anomalies, atresia of choanae (nasal passages), retardation of mental and genital development, ear anomalies and/or deafness (Pagon et al., 1981).

Is CHARGE syndrome an intellectual disability?

While developmental delays are common, involvement in physical, occupational, and speech therapies will assist many children with CHARGE syndrome in reaching their developmental potential. Some individuals with CHARGE may be diagnosed with an intellectual disability, but many will not.

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Can children with CHARGE syndrome talk?

About 60\% of children with CHARGE acquire symbolic language and communicate with spoken language, signs, and/or visual symbols. The mechanics of speech may be affected by craniofacial anomalies, breathing problems, and clefts.

What is the treatment for CHARGE syndrome?

Babies born with CHARGE syndrome are often cared for in a specialist center staffed by pediatric otolaryngologists and other medical specialists. Doctors perform surgery to correct life-threatening abnormalities as soon as possible after birth. Babies may also receive hormone therapy to correct genital abnormalities.

Is charge genetic?

CHARGE syndrome is a genetic disorder. It’s caused by changes in a particular gene, usually the CHD7 gene. In most cases there’s no family history of the disorder or similar conditions. But if you have CHARGE syndrome yourself, your chance of having a child with CHARGE syndrome is about 50\%.

What are the characteristics of CHARGE syndrome?

CHARGE syndrome, first described by Pagon, was named for its six major clinical features. They are: coloboma of the eye, heart defects, atresia of the choanae, retarded growth and development including CNS anomalies, genital hypoplasia and/or urinary tract anomalies, and ear anomalies and/or hearing loss.

What are the symptoms of Charge Syndrome?

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Signs and symptoms of CHARGE syndrome

  • a slit or groove in one of the structures of the eye (coloboma of the eye), like the iris or retina, which causes vision loss.
  • blocked nasal passages (choanal atresia), which causes breathing problems.
  • no sense of smell (anosmia)
  • difficulty swallowing, which causes feeding problems.

Can Charge syndrome be diagnosed before birth?

Can it be diagnosed before birth? If a CHD7 mutation is identified in a person with CHARGE, it is possible to test other people (or pregnancies or pre-implantation embryos) for that same gene. One reason to do CHD7 testing in a child with CHARGE is to make it possible to look for it in other family members.

What are the causes of CHARGE syndrome?

CHARGE syndrome is caused by mutations in the CHD7 gene in the majority of cases. Almost all mutations in affected individuals are de novo , which means they occur for the first time as new mutations and are not inherited from a parent.

Can CHARGE syndrome be passed down?

Is CHARGE syndrome inherited? CHARGE syndrome is usually not inherited, typically occurring due to a new (de novo) gene mutation in the affected individual. However, rare familial cases inherited in an autosomal dominant manner have been described.

What is life expectancy does someone with CHARGE syndrome face?

The life expectancy of patients with CHARGE syndrome varies widely, with individuals living anywhere from 5 days [Issekutz et al., 2005] to at least 46 years [Jongmans et al., 2006].

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What is the life expectancy of someone with noonan syndrome?

Life expectancy in case of Noonan syndrome depends on how well the person is taken care of, the complications of the syndrome etc. But it has been observed that the average life expectancy of a person with Noonan syndrome is ten years lesser than what it would have been for a normal person without the disease.

What is the life expectancy of someone with Cockayne syndrome?

Cockayne syndrome type 3 (type C) appears later in childhood with milder symptoms than the other types and a slower progression of the disorder. People with this type of Cockayne syndrome live into adulthood, with an average lifespan of 40 to 50 years. Related diseases are conditions that have similar signs and symptoms.

What is the life expectancy of a patient with Marfan syndrome?

The cardiac complications, particularly aortic dilatation, dissection and rupture and involvement of the aortic and mitral valves, lead to a greatly reduced life expectancy. This poor survival was demonstrated in a series of 257 patients with the Marfan syndrome. The average age at death for the 72 deceased patients was 32 years.