Search
Weill-Marchesani syndrome
Epidemiology:
- rare
Genetics:
- associated with defects in ADAMTS10 (autosomal recessive) [1]
- associated with defects in FBN1 (autosomal dominant) [2]
Clinical manifestations:
- short stature
- brachydactyly
- joint stiffness
- eye anomalies, including
a) microspherophakia
b) ectopia of the lenses,
c) severe myopia
d) glaucoma
- occasionally, heart defects
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM correlations
References
- OMIM :accession 277600
- OMIM :accession 608328