Genetic conditions included in the Community Genetics Program NSW

Tay-Sachs disease

Tay-Sachs disease (TSD) is a disorder of the central nervous system. In the classical form, symptoms typically appear by the age of 6 months, when an apparently healthy baby stops smiling, crawling or turning over, loses their ability to grasp or reach out, and gradually becomes blind and paralysed.  There is no cure for the disease and death usually occurs before the age of five years.  

Cystic fibrosis

Cystic fibrosis (CF) is a disorder which affects mainly the lungs, pancreas and sweat glands. People who have CF produce a mucus which is thick and sticky and clogs the small air passages in the lungs encouraging bacterial growth. Incomplete digestion, due to blockage of the ducts that connect the pancreas to the intestine, results in weight loss in spite of a hearty appetite. Daily physiotherapy and enzyme and nutrient supplements are needed to slow the progression of the disease.

Canavan disease

Canavan disease (CD) occurs due to an enzyme deficiency which leads to a loss of the white matter in the brain. The severity of the condition varies. In the most severe form, babies have normal early development but then lose skills and may have seizures. Affected children may die in the first few years of life or may survive into teenage years or beyond.

Fanconi anaemia

Fanconi anaemia (FA) is a disorder which causes bone marrow failure and an increased risk of leukaemia and other cancers. Some people with this condition are short and can have abnormalities of bone development, particularly affecting the thumb and forearm.

Familial dysautonomia

Familial dysautonomia (FD) is a disorder resulting in the abnormal development of the nervous system, particularly the sensory and autonomic systems. Commonly seen symptoms are an inappropriate perception of heat and pain, skin blotching, greatly fluctuating blood pressures and faulty gastrointestinal motility. Life expectancy is shortened, with some affected people dying in childhood.

Bloom syndrome

Bloom syndrome (BS) is a disorder with a wide range of symptoms including overall small body size and a predisposition to all cancers. Features commonly associated with BS are a narrow face, hypersensitivity to sunlight, skin patchiness, frequent infections, chronic lung disease, diabetes mellitus, reduced fertility and mental retardation. Early diagnosis is essential for detection and prevention of cancers.

Niemann-Pick disease

Niemann-Pick disease (NPD) types A and B are conditions in which there is abnormal storage of material in cells. Both cause problems including enlarged liver and spleen and lung disease. In NPD type A there is also progressive damage to the brain with death in early childhood.

Glycogen storage disease type 1a

Glycogen storage disease 1a (GSD1a) or von Gierke disease is a disorder in which the body is unable to make or use stores of glucose (in the form of glycogen) normally. This leads to a risk of dangerous low blood sugar and also causes problems with the liver and kidneys, among other features.

Mucolipidosis type 4

Mucolipidosis type 4 (ML4) is a disorder in which there is intellectual disability combined with a progressive loss of vision. Most affected children have very limited ability to speak, and few learn to walk.

Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a disorder which affects the nerves which control muscle movement (the motor neurons). Due to the motor neurons in the spinal cord not working properly, messages are not sent to the muscles through these motor neurons, causing the muscles to become weak and damaged. This occurs throughout the muscles in the body, including shoulders, hips, and back (most severely affected), muscles used for feeding and swallowing, and muscles used for breathing. Children with SMA type 1 usually die before the age of 2 years old. The other forms of SMA are less severe and lifespans can range.

Fragile X

Fragile X is a disorder which is inherited on the X chromosome. It can affect both males and females, however females normally present with a milder form. A child affected can present with developmental delays, learning disabilities, and social and behavioural issues. It can be linked to features of autism spectrum disorder.