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 Also known as: ARHR2; ENPP1 deficiency Background Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) is an extremely rare skeletal condition, characterized by low phosphate levels in the blood (hypophosphatemia) as...
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 Also known as: PoTS; POTS 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...
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 Also known as: Behcet’s disease 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...
Stiff Person syndrome Also known as: Stiff Man 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...
Hemiplegia For more information about hemiplegia visit our hemiplegia section. This section includes: Advice and support for your family My HemiCheck, a free tool, which creates your own customisable hemiplegia ‘checklist’...
Lymphangiomatosis Also known as: Generalised lymphatic anomaly; GLA Background If your child is affected by a medical condition or disability we can help. Call our freephone helpline on 0808 808 3555...
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...