Intermediate MPS I.
- Specialty
- Genetics
- Subspecialty
- Metabolic / Lysosomal storage
- Sex & age distribution
- Male: affected; Female: affected; Children: yes
- Gene(s) involved
- IDUA
- Alternative names & eponyms
- MPS I H/S
Etiology & mechanism
Partial IDUA deficiency.
Gene(s) involved (1)
Symptoms & signs (4)
In plain terms, someone with Hurler–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
Other syndromes that share symptoms with this one.
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Shares symptoms with
2 shared
Hurler syndrome
coarse facies, corneal clouding
2 shared
Maroteaux–Lamy syndrome
corneal clouding, joint stiffness
2 shared
Scheie syndrome
corneal clouding, joint stiffness
1 shared
Börjeson–Forssman–Lehmann syndrome
coarse facies
1 shared
Borjeson–Forssman–Lehmann syndrome
coarse facies
1 shared
Cantú syndrome
coarse facies
1 shared
Coffin–Lowry syndrome
coarse facies
1 shared
Coffin–Siris syndrome
coarse facies
1 shared
Costello syndrome
coarse facies
1 shared
Hajdu–Cheney syndrome
coarse facies
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