Lysosomal storage disease from beta-glucuronidase deficiency.
- Specialty
- Pediatrics
- Subspecialty
- Pediatrics / Pediatric metabolism
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, including hydrops fetalis
- Gene(s) involved
- GUSB
- Alternative names & eponyms
- Mucopolysaccharidosis type VII
Etiology & mechanism
GUSB deficiency.
Gene(s) involved (1)
Symptoms & signs (5)
In plain terms, someone with Sly 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
3 shared
Hurler syndrome
coarse facies, dysostosis multiplex, hepatosplenomegaly
2 shared
Hunter syndrome
coarse facies, hepatosplenomegaly
2 shared
Zimmermann–Laband syndrome
coarse facies, hepatosplenomegaly
1 shared
Aicardi syndrome
developmental delay
1 shared
Bannayan–Riley–Ruvalcaba syndrome
developmental delay
1 shared
Börjeson–Forssman–Lehmann syndrome
coarse facies
1 shared
Borjeson–Forssman–Lehmann syndrome
coarse facies
1 shared
Brain–lung–thyroid syndrome
developmental delay
1 shared
Cantú syndrome
coarse facies
1 shared
Cardio-facio-cutaneous syndrome
developmental delay
Shares genes with
None.
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