What is Noonan syndrome, and what are the signs and symptoms of this condition?
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Noonan syndrome is a developmental disorder characterized by unusual facial characteristics, short stature, heart defects, bleeding problems, and skeletal malformations. Eye abnormalities occur in up to 95 percent of people with Noonan syndrome. Problems with language and speech are common. Puberty for both males and females with Noonan syndrome is usually delayed for approximately two years. Most males with this disorder have undescended testicles (cryptorchidism) which can lead to infertility (inability to father a child) later in life. The majority of children diagnosed with Noonan syndrome have normal intelligence, but a small percentage have special educational needs, and some have mental retardation.
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