Hurler syndrome

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Synonyms: Hurler disease | MPS1H | MPSIH | Mucopolysaccharidosis type 1H | Mucopolysaccharidosis type IH

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term) a rare lysosomal storage disease characterized by skeletal abnormalities cognitive impairment heart disease respiratory problems enlarged liver and spleen characteristic facies and reduced life expectancy.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Hurler syndrome?

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Advocacy Organizations

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

Project Alive

Project Alive exists to find and fund a cure for Hunter Syndrome (also known as Mucopolysaccharidosis or MPS II) through research and advocacy. Project Alive is a powerful voice for children and adults with Hunter Syndrome, bringing together families and advocates with researchers, industry, and regulators. The organization funds promising curative research, assists researchers and industry with designing research studies for our community, and advocates for the most effective and efficient system of clinical research, evaluation, and approval. Through its innovative campaigns and grassroots efforts, Project Alive has made significant advances in public awareness about Hunter Syndrome and its symptoms, the need for early diagnosis, and available treatments and clinical trials.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.