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. Retardation (delay) of growth and/or development.Īlthough the name CHARGE is still used, it is now known that the condition has many more symptoms – with more than 120 now identified.Atresia choanae (choanal atresia nasal passages blocked by bone or tissue).The name CHARGE was first used in 1981 as an easy way to refer to a range of symptoms commonly seen in a number of children: How common is CHARGE syndrome?ĬHARGE syndrome occurs in approximately one in 10,000-15,000 births worldwide. Some features of CHARGE are not always present at birth. Babies with CHARGE syndrome may need to spend months in hospital. The early years can be medically very challenging. It’s a complex condition, involving physical disabilities that vary from person to person. CHARGE syndrome is a genetic syndrome with a known pattern of features.

Charge syndrome definition