![]() To date, more than 500 different changes to the CHD7 gene have been identified.Įveryone with changes to the CHD7 has some symptoms of CHARGE syndrome.īut, in some people with CHARGE syndrome, no changes in the CHD7 gene can be identified. However, whilst they may continue to be fragile, the life span of people with CHARGE syndrome can be normal.Ĭhildren diagnosed with CHARGE syndrome have a 70% chance of being alive five years after diagnosis.Īs people with CHARGE get older, causes of death can include infection, accidentally inhaling fluids or food (aspiration), and sleep apnoea.Changes (mutations) in a particular gene known as CHD7 cause CHARGE syndrome in the majority – more than two-thirds – of people with the condition. The early years are very challenging and there is an increased risk to mortality. What is the life span for someone with CHARGE syndrome? They could also be diagnosed with other conditions, like autism spectrum disorder or Tourette’s. Difficulty with focus and concentration.Difficulty shifting attention and moving on to new things.Difficulty using self-control, especially when stressed or overwhelmed.Sensation-seeking – for example, wanting bright colours or strongly flavoured food.Repetitive behaviour – biting, pacing or talking.Behavioural signsĬhildren with CHARGE syndrome often display behaviours that challenge. Hole between the trachea (windpipe) and oesophagus (gullet) (trachea-oesophageal fistula).Tetralogy of Fallot (the mixing of oxygen-poor blood with the oxygen-rich blood being pumped out of the heart and into the blood vessels). Short fingers (symbrachydactyly, brachydactyly).‘Hockey-stick’ crease in the palm: a thick crease across the palm close to the fingers that widens like the end of a hockey stick.Asymmetrical (unbalanced), square face.One or both eyes may also be too small (microphthalmia) or missing (anophthalmia). Lack of puberty without hormone treatment: 80–99% of people. One-sided facial weakness or paralysis (facial palsy): 50–90% of people.Swallowing difficulties: 60–80% of people.Total loss or reduced sense of smell (anosmia): 90–100% of people.Cranial nerve abnormalities in people with CHARGE syndrome include: The cranial nerves are a set of 12 paired nerves in the back of the brain. Other symptoms of CHARGE syndrome Cranial nerve abnormalities ![]() 60–90% of affected people have inner ear problems, such as abnormal semicircular canals or nerve defects, which may result in hearing loss, balance problems, fluid in the ears and frequent ear infections.86% of affected people have visible deformities of the outer ear, such as floppy ears or missing earholes.15–25% of affected females have underdeveloped genitals (small labia).80–90% of affected males have underdeveloped genitals (small penis).Underdeveloped genitals are a tell-tale sign of CHARGE in males, but not so much in females.70% of people with CHARGE have lower IQs, ranging from nearly average to severe intellectual disability.Delayed physical development is due to a lack of growth hormones and/or feeding difficulty.Around 75% of children with CHARGE are shorter and weigh less than average.Retardation (delay) of growth and/or intellectual development This affects 43% of people with CHARGE.The back of the nasal passage is blocked or narrowed on one or both sides, or doesn’t connect with the back of the throat (atresia).It affects about 70–90% of people with CHARGE.A coloboma is fissure (crack) in the eye, usually at the back.Not everyone with the condition will develop all of these symptoms. ![]()
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