Weill-Marchesani syndrome
Disorder | |
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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, brachycephaly, ctopia lentis, glaucoma, microspherophakia, irregular placement of teeth, contractures, scoliosis, broad metacarpals, broad metatarsals, thick skin, congenital heart defect, brachydactyly, |
Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
Remarks: | Autosomal recessive |
Mutations | |
1 Amish | |
Gene: | ADAMTS10 |
Base Change: | 17,346 bp deletion |
Amino Acid Change: | |
Last updated: | 2022-11-11 |
References |
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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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