charge syndrome

What are the Key Features of CHARGE Syndrome?

The key features of CHARGE syndrome include:
Coloboma: A defect in the eye that can affect the iris, retina, or optic nerve.
Heart Defects: Congenital heart defects are common and can include atrial septal defect, ventricular septal defect, and tetralogy of Fallot.
Atresia Choanae: A blockage of the nasal passage that can cause breathing difficulties.
Retarded Growth and Development: Delays in physical growth and motor skills are often observed.
Genital Abnormalities: These can include micropenis, cryptorchidism, and hypogonadism in males, and hypoplastic labia in females.
Ear Abnormalities: These can include malformed outer ears, hearing loss, and balance issues due to inner ear abnormalities.

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