Hydranencephaly 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...
XYY syndrome XYY syndrome is a chromosomal condition which occurs only in males. A chromosome is a rod-like structure present in the nucleus of all body cells, with the exception of the...
Marcus Gunn syndrome Also known as: Gunn syndrome; Marcus Gunn Jaw-winking syndrome; Marcus Gunn’s Phenomenon; Marcus Gunn Ptosis What is Marcus Gunn syndrome? Marcus Gunn syndrome causes involuntary facial movement, including ‘jaw winking’....
Smith-Lemli-Opitz syndrome Background Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder of cholesterol synthesis caused by mutations in 3β-hydroxysterol Δ7-reductase (DHCR7) gene. The estimated incidence of SLOS is between 1 in...
Contact’s response to the Spring Budget Chancellor Jeremy Hunt has today announced the government’s Budget for the year ahead, saying it would “break down barriers that stop people working.” Though much of the Budget was focused...
Bardet-Biedl syndrome Also known as: Laurence-Moon-Bardet-Biedl syndrome; Laurence-Moon-Biedl syndrome Background Bardet-Biedl syndrome (BBS) is a rare inherited (autosomal recessive) condition. It is characterised by vision loss, obesity, additional fingers and/or toes, undeveloped...
Incontinentia Pigmenti Also known as: Bloch-Sulzberger syndrome Background IP is a rare genetic condition affecting the skin, hair, teeth and eyes. It is a type of ectodermal dysplasia. IP almost always affects...
Pallister-Hall syndrome Also known as: Ano-cerebro-digital syndrome; CAVE Lethality Multiplex syndrome; Cerebro-acro-visceral Early Lethality Multiplex syndrome; Hypothalamic Hamartoblastoma syndrome Background Pallister-Hall syndrome (PHS) is a rare genetic condition. The main features include:...
Accessing Child Trust Funds: Get advice at our Facebook Live on 19 June More than 80,000 disabled young people with learning disabilities in England and Wales are at risk of getting locked out of their own savings due to the complex process required...
Contact’s CEO, Amanda Batten, gives an update on how what you told us about life in lockdown is making an impact In May, over 4,000 of you shared your experience of lockdown, in response to the Disabled Children’s Partnership (DCP) survey and here, Contact's CEO and Chair of the DCP, Amanda...
Contact responds to government’s Autumn Statement Today, Chancellor Jeremy Hunt set out the government’s plans for the economy in his Autumn Statement. Measures announced include: Read the Chancellor’s Autumn Statement in full. Our CEO responds to...
NEW Virtual workshop for practitioners this February – Supporting Children with Anxiety Book your place on our latest virtual workshop for practitioners happening on Thursday 23 February, 7-9pm, and find out more about the causes of anxiety in children and strategies to...
Ohtahara syndrome Also known as: Early Infantile Epileptic Encephalopathy Background Ohtahara syndrome is a rare form of childhood epilepsy, which was first described by Ohtahara in 1976. It is one of several...
Dad’s marathon run for Contact after twins’ premature birth and hemiplegia diagnosis Running a marathon distance to raise money for Contact.
Congenital Myotonic Dystrophy Background Congenital myotonic dystrophy is a serious form of myotonic dystrophy type 1 (DM1). DM1 usually affects adults, but can affect individuals of all ages and both sexes. Congenital means...
Osteoporosis (Juvenile) Background Osteoporosis literally means ‘porous bones’. It occurs when the struts which make up the mesh-like structure within bones become thin causing them to become fragile and break easily following...
Pseudoxanthoma Elasticum Background Pseudoxanthoma elasticum (PXE) is a rare inherited disorder of connective tissue mainly affecting the skin and the eye. PXE is known in all ethnic groups, but affects around twice...
Glomerulonephritis Also known as: Glomerular Nephritis Background Glomerulonephritis, inflammation of the glomeruli (small filtering structures in the kidney) is an umbrella name for a range of conditions generally caused by an...