What is a Stickler Syndrome ? It s a condition that can result in severe problems of the eyes, ears and the joints. The condition is often referred to as hereditary progressive arthro-ophthalmopathy and is generally detected during childhood. Children affected by Stickler syndrome usually elicit unique facial characteristics such as a tiny nose, striking… Continue reading Sticker Syndrome
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Klinefelter syndrome
Klinefelter syndrome is a hereditary disorder which occurs when a baby boy is born with an additional copy of the X chromosome. It is amongst the most frequent hereditary diseases affecting men. The disease adversely affects growth of the testicles due to which the size of testicles is smaller than normal. This reduces the production… Continue reading Klinefelter syndrome
Prader-Willi syndrome – Pictures, Symptoms, Causes, Treatment, Life Expectancy
What is Prader-Willi syndrome? It is an uncommon congenital condition that is characterized by presence of varied mental, physical, and behavioral abnormalities. One of the main features of Prader-Willi syndrome is a perennial sense of hunger which typically commences a year after birth. Individuals affected by Prader-Willi syndrome have a constant desire to keep eating and… Continue reading Prader-Willi syndrome – Pictures, Symptoms, Causes, Treatment, Life Expectancy
Wolf-Hirschhorn Syndrome
Wolf-Hirschhorn syndrome is a genetic condition that is present from birth. It is caused due to deletion of a section of chromosome 4. The disorder is characterized by a variety of unique symptoms and defects such as intellectual deficits, unusual facial features, seizures, severe developmental delays, and other kinds of congenital abnormalities. Wolf-Hirschhorn syndrome has… Continue reading Wolf-Hirschhorn Syndrome