Genetic disorders

Genetic differences impact many aspects of health and development. Some genetic disorders affect people from birth, while others develop later in life. 

Albinism is a group of genetic conditions. People with albinism have no or very little colour in their hair, skin and eyes so sun protection is vital.

Alpha-1 antitrypsin deficiency (AATD) is a genetic condition that can cause lung and liver disease. Learn more about AATD symptoms and treatments.

Angelman syndrome is a genetic condition that causes intellectual disability. It can't be cured, but therapy can improve your quality of life.

Apert syndrome is a rare genetic disorder that causes changes to the shape of the skull. Learn more about the other signs of Apert syndrome.

Charcot-Marie-Tooth (CMT) disease affects your nervous system. It’s a progressive disease, but some therapies can help with your CMT symptoms.

Chiari (or Arnold-Chiari) malformation occurs when part of the brain pushes into your spinal canal. Learn more about the symptoms and treatments here.

Cleft lip or palate happens when parts of the lip, upper jaw or roof of the mouth don't join properly early in pregnancy.

Clubfoot is when one or both of your baby's feet are pointed and twisted. Some babies are born with it. Clubfoot does not hurt and can be treated.

Congenital adrenal hyperplasia affects your adrenal glands and causes imbalances in the levels of certain hormones. It can be mild or severe.

Congenital heart disease happens when the heart doesn't develop properly before birth. There are different types and can range from mild to severe.

Read about craniosynostosis — when the seams between the bones in your baby's skull close too early, causing an abnormal head shape.

Cri du chat syndrome is a rare genetic disorder that causes a weak, high-pitched cry. Learn more about the symptoms of cri du chat syndrome here.

Cystic fibrosis (CF) is a genetic disease that affects many body organs, including lungs and digestive system. Learn about CF symptoms and treatments.

Down syndrome is caused by an extra chromosome 21. Down syndrome affects people differently. It causes learning difficulties and health problems.

DMD, the most common muscular dystrophy in kids, causes gradual loss of muscle function, affecting everyday activity. Treatment may help daily life.

Dwarfism refers to people of short stature. Most people with dwarfism lead relatively long and healthy lives. Find out more about dwarfism here.

Edwards syndrome, also called Trisomy 18, is a genetic disorder that causes severe disability. It is caused by an extra copy of chromosome 18.

Fabry disease is a rare genetic disorder that can affect many parts of the body and lead to many different types of symptoms. Learn more here.

Fragile X syndrome is the most common inherited cause of intellectual disability. It also causes physical, behavioural and emotional difficulties.

Haemochromatosis causes your body to absorb too much iron, leading to organ damage. Read about the symptoms, diagnosis and available treatments.

Hip dysplasia can happen when your hip joint does not develop properly. Find out more about the symptoms, diagnosis and treatment of hip dysplasia.

Klinefelter (XXY) syndrome symptoms includes small genitals and infertility. Around 1 in 1000 males have Klinefelter syndrome, but most are unaware.

Lynch syndrome, formerly known as HNPCC, is a genetic condition that increases the risk of a person developing some cancers, such as bowel cancer.

Marfan syndrome is a genetic condition that causes a loss of elastic tissue. Find out about the symptoms and treatments for Marfan syndrome.

Muscular dystrophy is a group of inherited diseases that cause muscle weakness. Learn more about the different types, symptoms and treatment options.

Neurofibromatosis is a manageable genetic condition characterised by benign tumours. Learn more about its symptoms, diagnosis and treatment options.

Children with Noonan syndrome may have unusual facial features, heart and growth problems. With therapy, most will go on to lead normal lives.

Phenylketonuria (PKU) is an inherited problem with breaking down protein. With diagnosis and the right diet, people with PKU can live a normal life.

Prader-Willi syndrome (PWS) is a rare genetic condition that can cause an limitless appetite. Read more about the symptoms and treatments.

Rett syndrome causes intellectual and physical disability, with loss of speech and movement skills. Learn about symptoms, causes and treatments.

Spina bifida is a birth defect that affects a baby's spine from early pregnancy. Having enough folate in your diet lowers your baby's risk.

Spinal muscular atrophy (SMA) is a genetic disease that causes your muscles to become weaker. Learn more about the 5 different types of SMA.

Babies with Tay-Sachs develop slowly, lose vision and speech and typically don't reach school age. It's more common in certain genetic groups.

Tuberous sclerosis is a rare genetic disease that may affect many parts of your body. There’s no cure, but tuberous sclerosis can be treated.

Turner syndrome is a genetic disorder caused by a missing or partially missing X chromosome. Find out more about its symptoms and treatments here.

Congenital disorders are health conditions that are present from birth. They are also called birth differences, congenital anomalies or birth defects.

Williams syndrome can cause development, learning and medical problems, although children with it often have well-developed language and music skills.