Cystic Fibrosis (CF) is a genetic condition that affects the lungs and digestive system. It causes thick and sticky mucus to build up in the lungs, leading to breathing problems, lung infections, and digestive issues.
CF can impact daily life and require ongoing medical care.
Down syndrome is a genetic condition that occurs when a person has an extra chromosome 21. It can cause physical and intellectual disabilities, but people with Down syndrome can lead fulfilling lives with support and care.
Ehlers-Danlos Syndrome (EDS) is a group of 13 genetic disorders that affect the connective tissues, which support the skin, bones, blood vessels, and organs.
People with EDS have hyperelastic (stretchy) skin, joint hypermobility (overly flexible joints), and are more prone to bruising and injury.
Fragile X Syndrome is a genetic condition that causes intellectual disability, learning difficulties, and behavioural challenges. It affects brain development and is more common in males. People with Fragile X may also experience anxiety, social difficulties, and features of autism.
Marfan syndrome is a genetic condition that affects the body’s connective tissue, which supports organs and structures. It can impact the heart, blood vessels, bones, joints, and eyes. People with Marfan syndrome are often tall and thin with long arms, legs, fingers, and toes, and may have joint or heart issues.
Muscular Dystrophy (MD) is a group of genetic disorders that cause muscles to weaken over time. This leads to difficulty in moving, walking, breathing, and performing daily tasks.
Prader-Willi Syndrome (PWS) is a rare genetic condition that affects physical, intellectual, and behavioural development. Key features often include low muscle tone, intellectual disability, short stature, emotional and behavioural challenges, and a chronic feeling of hunger that can lead to overeating and obesity if not managed.
Turner Syndrome is a condition that affects females, where one of the X chromosomes is missing or incomplete.
It can cause various physical and developmental challenges, including short stature, infertility, and certain health problems like heart defects or hearing loss.
Williams Syndrome is a rare genetic disorder caused by the deletion of genes on chromosome 7. It is characterised by distinctive facial features, cardiovascular issues (e.g., supravalvular aortic stenosis), developmental delays, and a unique cognitive profile with strong verbal skills but challenges in spatial reasoning and fine motor tasks.
