Timothy syndrome Also known as: TS Background Timothy Syndrome (TS) is a rare, multi-system condition caused by genetic changes in the L-Type calcium channel gene named CACNA1C. Individuals with Timothy Syndrome are...
Autosomal Recessive Hypophosphatemic Rickets Type 2 Background Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) is an extremely rare skeletal condition, characterized by low phosphate levels in the blood (hypophosphatemia) as a result of high phosphate excretion...
Stevens-Johnson syndrome Background 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...
Postural tachycardia syndrome Background 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...
Myelodysplastic syndrome Background 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...
Isovaleric acidaemia Background 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...
Homocystinuria Background 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...
Sepsis Background 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...
Behcet’s syndrome Background 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...
Stiff Person syndrome Background Stiff person syndrome (SPS; sometimes called stiff man syndrome in the medical literature) is a rare neurological disease that affects approximately 1 in 200,000 individuals – both male and...
Lymphangiomatosis Background 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...
Mitochondrial diseases Background Mitochondrial diseases are a group of disorders that are extremely variable in the way people are affected. They occur when the mitochondria, the energy-producing structures found in nearly every...