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Scheie syndrome

MONDO:0011760

Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

Also known as: MPS I S, MPS1S, MPSIS, Scheie syndrome, mucopolysaccharidosis type 1S, mucopolysaccharidosis type IS, MPS V, MPS V, formerly

4 clinical trials for this condition and its sub-types.

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Broader categories

Disease (680) Metabolic disease (233) Musculoskeletal system disorder (207) Hereditary disease (176) Eye disorder (102) Bone disorder (51) Inborn errors of metabolism (45) Lysosomal storage disease (35) Syndromic disease (25) Human disease (14)
Trials to join now! 1 Not yet recruiting 2 Not yet finished but already full! 1
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  • New study monitors heart risks in rare genetic disease

    Knowledge-focused Ongoing

    This study follows 30 people with mucopolysaccharidoses (MPS) over three years to see how their heart and arteries change. Researchers use neck ultrasounds and blood tests to measure artery thickness, stiffness, and signs of inflammation. The goal is to better understand cardiova…

    Sponsor: Children's Hospital of Orange County • Aim: Knowledge-focused

    Last updated Jun 27, 2026 08:09 UTC

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