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Pediatrics · Pediatrics / Pediatric metabolism

Scheie syndrome

also: attenuated MPS I; MPS I S

Attenuated MPS I with corneal clouding and joint stiffness.

Specialty
Pediatrics
Subspecialty
Pediatrics / Pediatric metabolism
Sex & age distribution
Male: affected; Female: affected; Children: yes, onset after age 5
Gene(s) involved
IDUA
Alternative names & eponyms
attenuated MPS I; MPS I S

Etiology & mechanism

Partial IDUA deficiency.

Gene(s) involved (1)

Symptoms & signs (5)

In plain terms, someone with Scheie syndrome may experience the following — click any to explore related syndromes:

Same gene(s)

Other syndromes that involve one of this syndrome's genes.

Overlapping symptoms

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