Epilepsy syndromes in Childhood
Background The epilepsies are a group of conditions in which people are prone to have attacks (epileptic seizures or fits). A seizure is caused by a burst of excess electrical...
Background The epilepsies are a group of conditions in which people are prone to have attacks (epileptic seizures or fits). A seizure is caused by a burst of excess electrical...
If your child is affected by medical condition or disability we can help. Call our freephone helpline on 0808 808 3555 to get information, support and advice. You can also...
Background Familial hypercholesterolaemia (FH) is an inherited condition causing excess cholesterol in the blood. Cholesterol comes from the food we eat, but it is also made in our liver. Cholesterol...
Also known as: Fanconi’s Anaemia Background Fanconi anaemia (FA) is an inherited genetic condition, which can lead to lead to aplastic anaemia (where the bone marrow is unable to produce...
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...
Fragile X syndrome is the most common identifiable cause of inherited intellectual disability and autism spectrum conditions. It arises from changes on the X chromosome in a specific gene that...
Background Galactosaemia is a rare genetic disorder that can cause a severe life-threatening illness in babies fed with breast milk or standard formula milks. In addition some long-term problems occur...
Also known as: Glanzmann Thrombasthenia Background Glanzmann’s thrombasthenia (GT) is a rare genetic bleeding disorder affecting the small cell fragments in the blood called platelets. Platelets are important because after...
Also known as: Hashimoto’s Encephalopathy; Non-vasculitic Autoimmune Meningoencephalitis; Steroid-responsive Encephalopathy associated with Autoimmune Thyroiditis Background Hashimoto’s encephalitis (inflammation/swelling of the brain) was first described in 1966. It is a rare,...
Background This is a rare brain malformation which is characterised by the enlargement and malformation of an entire cerebral hemisphere. Credits Medical text written December 2001 by Dr H Cross....
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...
Background Histiocytoses affect white blood cells called histiocytes, which are important for preventing infections. In Langerhans cell histiocytosis (LCH), abnormal histiocytes, called Langerhans dendritic cells accumulate and damage many organs....
Also known as: Alobar HPE Background Holoprosencephaly (HPE) is a series of brain malformations in which there is incomplete development of the cerebrum. Its effects on the child range from...
Background Hydranencephaly is a condition that usually arises in mid or late pregnancy when a major reduction of blood supply to the brain results in loss of most of both...
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...
Background The term hypermobility means ‘more movement’ and describes the over flexibility of the joints. Hypermobility syndrome (HMS) is an inherited condition in which the protein, collagen, which makes up...
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...
The government has published long overdue draft statutory guidance for the Down Syndrome Act 2022 in England and Wales, along with a public consultation inviting responses before 30 March 2026....