Microspherophakia with short stature and brachydactyly.
- Specialty
- Ophthalmology
- Subspecialty
- Ophthalmology / Congenital malformation
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, congenital
- Gene(s) involved
- ADAMTS10, ADAMTS17, FBN1, LTBP2
- Alternative names & eponyms
- WMS
Etiology & mechanism
Fibrillin-1 microfibril and ADAMTS defects.
Gene(s) involved (4)
Symptoms & signs (7)
In plain terms, someone with Weill–Marchesani 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
Peters plus syndrome
brachydactyly, glaucoma, short stature
2 shared
Aarskog–Scott syndrome
brachydactyly, short stature
2 shared
Lowe syndrome
glaucoma, short stature
2 shared
Marshall syndrome
high myopia, short stature
1 shared
3M syndrome
short stature
1 shared
Andersen–Tawil syndrome
short stature
1 shared
Axenfeld–Rieger syndrome
glaucoma
1 shared
Bloom syndrome
short stature
1 shared
Börjeson–Forssman–Lehmann syndrome
short stature
1 shared
Cardio-facio-cutaneous syndrome
short stature
Shares genes with
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