Amish, Mennonite, and Hutterite
Genetic Disorder Database

Weill-Marchesani syndrome

Disorder
OMIM #: #277600  (Click to access OMIM database)
Disorder: Weill-Marchesani syndrome 
Also known as: WM SYNDROME
WMS, SPHEROPHAKIA-BRACHYMORPHIA SYNDROME, MESODERMAL DYSMORPHODYSTROPHY, CONGENITAL 
Clinical
Phenotype: short stature, joint limitation and/or contractures, brachydactyly, ectopia lentis, microspherophakia, glaucoma 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks: OMIM #608328 
Mutations
1   Amish  
Gene: ADAMTS10
Base Change: 15 exon del
Amino Acid Change:
Last updated: 2017-08-09 

References
Morton DH, Morton CS, Strauss KA, Robinson DL, Puffenberger EG, Hendrickson C, Kelley RI. (2003) Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania. Am J Med Genet C Semin Med Genet 121(1): 5-17.
PubMed ID: 12888982 
Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36.
PubMed ID: 19630565 

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