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.
Genetic counselling is a process that provides information and support to individuals and families at risk of, or with, a genetic condition.
Understanding your child's cleft lip and/or palate through genetic assessments.
Medulloblastoma is the most common form of brain cancer among children. Learn more about medulloblastoma symptoms, causes, diagnosis and treatment.
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.
Information for parents about hereditary multiple osteochondromas (previously called hereditary multiple exostoses), a genetic condition that causes growths (bumps) on the bones.
Congenital myasthenic syndrome (CMS) is caused by genetic mutations that cause problems with nerve-to-muscle communication leading to muscle weakness and fatigue.
Information for parents about trisomy 13, a rare genetic condition that causes developmental delay and affects many different organ systems.
Information for parents about trisomy 18, a rare genetic condition that causes developmental delay and affects many different organ systems.
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.
Noonan syndrome is a genetic condition. Learn about the symptoms and diagnosis of Noonan syndrome and the heart conditions associated with the condition.
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 the genetic neuromuscular disorder called Friedreich ataxia (FRDA).
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.
Information for parents about infantile osteopetrosis, a rare genetic condition that may cause fractures, short stature (height), recurrent infections, hearing loss and vision problems.
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.
Information about campomelic dysplasia, a genetic condition that affects the development of the skeleton and reproductive system.
Polydactyly of the foot is a genetic condition where a person is born with one or more extra toes. Learn more about this condition and how it is treated.
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.
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.
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.
Cleidocranial dysplasia is a genetic disorder that affects the development of bones and teeth. Learn what to expect with a diagnosis of CCD.
Read about the causes, symptoms and treatments for generalized epilepsy syndromes.
Read about the causes, symptoms and treatments for epileptic encephalopathies and progressive syndromes.
