Genetic counselling helps people understand genetic or inherited disorders. It can help families learn about neurofibromatosis type 1 (NF1) and decide if testing is right for them.
Neurofibromatosis Type 1 (NF1) occurs because of a mutation to the NF1 gene. About half of cases are spontaneous mutations, while the other half are inherited from a parent to a child.
Neurofibromatosis type 1 (NF1) is a skin condition that causes growths on nerves. Find out what NF1 genetic testing is, what the test results mean and why to consider testing for it.
Learn about clinical and genetic testing, two ways that doctors diagnose Neurofibromatosis Type 1 (NF1). Each of these methods has advantages and limits.
A child with neurofibromatosis type 1 must have consistent medical care. Parents can use this checklist to ensure their child receives all the care they need.
A list of websites with in-depth information on neurofibromatosis type 1 (NF1) in children.
Neurofibromatosis or NF1 causes growths to form on nerve tissues. Learn about both the common and uncommon skin and bone abnormalities of this condition.
Genetics can play an important role in your family's health. Learn more about genetics; genetic counselling, screening, and diagnosis; different genetic conditions; and how genetics relate to understanding and managing overall health.
Learn how the complications of Neurofibromatosis Type 1 (NF1) are treated.
Plexiform neurofibromas (PNs) are types of tumours that grow along nerves, most commonly occurring in children with neurofibromatosis type 1 (NF1). Learn about the symptoms, causes, treatment and long-term outcomes.
Genetic counselling is a process that provides information and support to individuals and families at risk of, or with, a genetic condition.
Acute lymphoblastic leukemia (ALL) is the most common childhood cancer. Learn about how this cancer develops and what factors may affect the development of the disease.
Myotonic dystrophy type 1 (DM1) disease is a genetic disorder that causes muscle stiffness, that over time causes the muscles to become weaker and smaller.
Congenital myasthenic syndrome (CMS) is caused by genetic mutations that cause problems with nerve-to-muscle communication leading to muscle weakness and fatigue.
Understanding your child's cleft lip and/or palate through genetic assessments.
Learn about the genetic neuromuscular disorder called Friedreich ataxia (FRDA).
Charcot-Marie-Tooth (CMT) is a genetic disease that affects the nerves that connect the spinal cord to the muscles and sensory receptors in the body, leading to muscle wasting, loss of sensation and challenges with balance and coordination.
Learn about facioscapulohumeral muscular dystrophy (FSHD) disease, a genetic condition that leads to progressive muscle weakness and loss of muscle bulk mostly affecting the facial, shoulder and upper arm muscles.
Café-au-lait macules are flat marks on the skin. Find out how CALMs are diagnosed, how they affect the body and how they are treated.
Read about the many different types of low-grade gliomas, including cerebellar, optic, brainstem, hemispheric, thalamic, and spinal cord.
Learn about how acute myeloid leukemia (AML) develops and what factors may affect the development of the disease.
Read about the causes, symptoms and treatments for epileptic encephalopathies and progressive syndromes.
Learn about the many different causes of epilepsy in children, which are classified into six categories: structural, genetic, infectious, metabolic, immune and unknown.
Information about cartilage-hair hypoplasia, a genetic condition that may cause short stature (height), shorter arms and legs than expected, fine, sparse hair and problems with blood and the immune system.
Information for parents about hereditary multiple osteochondromas (previously called hereditary multiple exostoses), a genetic condition that causes growths (bumps) on the bones.
