Spina Bifida If your child is affected by a medical condition or disability we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. You can...
Anencephaly Anencephaly is a condition affecting the development of the brain and often the spinal cord. It occurs at birth and is a very serious condition. Sadly, babies are not able...
Syringomyelia Background Syringomyelia refers to a cystic-like change (syrinx) within the spinal cord. It can have many different causes such as spinal cord trauma, spinal cord tumours, scoliosis, spinal cord tethering and...
Scoliosis Also known as: Crooked Spine Background The spinal column has natural curves which gives roundness to shoulders/chest (thoracic kyphosis) and makes our lower back curve slightly inwards (lumbar lordosis) when...
Hydrocephalus Background Hydrocephalus is commonly known as ‘water on the brain’. There are four cavities called ventricles inside the brain. A watery fluid known as cerebrospinal fluid (CSF) flows through narrow...
Dandy-Walker syndrome Background Dandy-Walker syndrome (DWS) is a brain malformation involving the cerebellum (an area at the back of the brain that controls movement) and the fluid-filled spaces around it. Within the...
Klippel-Feil syndrome Background Klippel-Feil syndrome is a rare disorder caused by failure of the division of the bones in the cervical (neck) section of the spinal column during embryonic development. Presentation may...
Arteriovenous Malformations Background An arteriovenous malformation (AVM) is a tangled web of abnormal arteries and veins connected by fistulas (abnormal corridors). AVMs are thought to be present from birth and most commonly...
Fetal Anti-convulsant syndrome Background Babies exposed to anti-convulsant medication (also known as anti-epileptic drugs, or AEDs) taken by the mother during pregnancy have a higher risk of suffering some birth defects. The risk...
Idiopathic Intracranial Hypertension Also known as: Benign Intracranial Hypertension; Pseudotumour Cerebri Background Idiopathic intracranial hypertension (IIH) is a condition where intracranial pressure ((ICP) the pressure of fluid in the head) is raised. This...
Spinal Injuries If your child is affected by a medical condition or disability we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. You can...
Patau syndrome Also known as: 13+ syndrome; Trisomy 13 Background Patau syndrome is a chromosome abnormality where the child has an extra chromosome 13 in every cell. It is a rare condition,...
Spinal Muscular Atrophy Background Spinal Muscular Atrophy (SMA) is a rare, genetic neuromuscular condition causing progressive muscle wasting (atrophy) and weakness leading to loss of movement. Approximately one in every 10,000 babies worldwide are born with a Type...
Congenital Insensitivity/Indifference to Pain Also known as: Channelopathy Insensitivity to Pain; Congenital Analgesia; Congenital Insensitivity to Pain; Hereditary and Sensory Autonomic Neuropathy Types I-IVtivity to Pain HSAN Types I-IV Background In our bodies all...
Sacral Agenesis Background The sacrum is a bone at the base of the spinal column that is formed following the fusion of five vertebrae. It sits near the top of the buttocks...
What is hemiplegia? What is hemiplegia? Childhood hemiplegia (sometimes called hemiparesis) is a condition caused by damage to the parts of the brain or spinal cord (the central nervous system) that control movements...
Duchenne Muscular Dystrophy Background Duchenne muscular dystrophy (DMD) is a muscle wasting condition, which gets worse over time. Muscle weakness occurs because of a genetic defect that prevents dystrophin, a protein in muscle,...
Familial Spastic Paraplegia Also known as: Familial Spastic Paraparesis; Hereditary Spastic Paraplegia; Strümpell-Lorrain disease Background Familial spastic paraplegia (FSP) describes a group of largely progressive conditions predominantly affecting the legs. At a clinical...