Conditions and Treatments

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...

Tay-Sachs disease is a serious genetic disorder common in Ashkenazi Jews and French-Canadians...

A feature of Prader-Willi syndrome is the child's excessive appetite, which often leads to obesity...

Noonan syndrome is a genetic condition that usually includes heart abnormalities and characteristic facial features...

All children with severe haemophilia are given preventative treatment with infusions of blood products before they have a bleed...

The facts about fragile X syndrome are complicated, and parents and family members are invited to ask their doctor to refer them to a genetics clinic...

Dwarfism refers to a group of conditions characterised by shorter than normal skeletal growth...

With the support and opportunities available to them today, most people with Down syndrome are able to achieve and participate as valued members of their community...

Most children born with cri du chat syndrome have moderate intellectual disability, with varying degrees of speech delay and some health problems...

Thalassaemia is an inherited blood disorder that can cause anaemia or death if not treated...