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Kabuki syndrome affects males and females equally and there is no cure...
The World Health Organization recommends that pregnant women should avoid alcohol...
Noonan syndrome is a genetic condition that usually includes heart abnormalities and characteristic facial features...
Williams syndrome often goes undiagnosed, which means that some people with the disorder fail to get the support and treatment they need until later in life...
Syringomyelia is the growth of a cyst in the spinal cord that may result in paraplegia or quadriplegia if not treated...
Folic acid taken before conception, and during at least the first four weeks of pregnancy, can prevent around seven out of 10 cases of neural tube defects...
The causes of ambiguous genitalia include genetic variations, hormonal imbalances and malformations of the fetal tissues that are supposed to evolve into genitals...
Dwarfism refers to a group of conditions characterised by shorter than normal skeletal growth...
Children affected by trisomy usually have a range of birth defects, including delayed development and intellectual disabilities...
Neurofibromatosis is caused by faulty genes, which may be inherited or have spontaneously mutated at conception...