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, 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 |
|---|
| 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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