Fragile X disorders include two distinct conditions: fragile X syndrome (the most common single-gene cause of developmental delay and autism) and an entirely separate group of premutation syndromes.

An experimental technique that patches defective DNA with donated genetic material helped families at risk of passing rare ...

The Trump administration is encouraging people to have more children, with baby bonuses and tax breaks. But some families who ...

Purple urine? Skin like tree bark? An allergy to water? To the patients who have them, these weird diseases, syndromes and ...

Enzo Cornejo tells the anaesthetists he wants to know exactly when they are going to put him to sleep. There’s something ...

Children with progeria have an average life expectancy of just 13 to 15 years, with most dying from heart attacks or strokes at a young age.