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In January 2021 the Department of Health and Social Care published the UK Rare Diseases Framework, a policy paper which included a commitment that the four nations would develop action plans, working with the rare disease community, and that "where possible, each nation will aim to publish the action plans in 2021". [30]
The Journal concluded that the average cost burden for a rare disease patient is $266,000 per year, compared to $26,000 for more common diseases. The study demonstrates several additional costs ...
Koolen–De Vries syndrome (KdVS), also known as 17q21.31 microdeletion syndrome, is a rare genetic disorder caused by a deletion of a segment of chromosome 17 which contains six genes. This deletion syndrome was discovered independently in 2006 by three different research groups. [1] [2] [3] [4]
Subacute sclerosing panencephalitis (SSPE), also known as Dawson disease, is a rare form of progressive brain inflammation caused by a persistent infection with the measles virus. The condition primarily affects children, teens, and young adults. It has been estimated that about 2 in 10,000 people who get measles will eventually develop SSPE. [1]
Silver–Russell syndrome, also called Silver–Russell dwarfism, is a rare congenital growth disorder. In the United States it is usually referred to as Russell–Silver syndrome, and Silver–Russell syndrome elsewhere. It is one of 200 types of dwarfism and one of five types of primordial dwarfism.
Townes–Brocks syndrome [1] (TBS) is a rare genetic disease that has been described in approximately 200 cases in the published literature. It affects both males and females equally. [ 2 ] The condition was first identified in 1972. [ 2 ]
Hoyeraal–Hreidasson syndrome [2] is a very rare multisystem X-linked recessive disorder characterized by excessively short telomeres and is considered a severe form of dyskeratosis congenita. [ 2 ] [ 3 ] Being an X-linked disorder, Hoyeraal–Hreidasson syndrome primarily affects males.
HCP is a rare disease, but the exact incidence is difficult to determine due to the reduced penetrance of the acute porphyrias. Overall, the incidence of all porphyrias is estimated at 1:20,000 in the United States. [2] The incidence of harderoporphyria is even lower, with less than 10 cases reported worldwide. [1]