Marfan syndrome
| Disorder | |
|---|---|
| OMIM #: | #154700 (Click to access OMIM database) |
| Disorder: | Marfan syndrome |
| Also known as: | MARFAN SYNDROME, TYPE I MFS1 |
| Clinical | |
| Phenotype: | increased height, disproportionately long limbs and digits, pectus excavatum, pectus carinatum, mild to moderate joint laxity, vertebral defects, high-arched palate, crowding of teeth, myopia, increased axial globe length, corneal flatness, ectopia lentis, mitral valve prolapse, tricuspid valve prolapse, mitral regurgitation, aortic dilation, aortic dissection, aortic regurgitation, heart failure |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Amish | |
| Gene: | FBN1 |
| Base Change: | del.C, at nucleotide 3704 |
| Amino Acid Change: | |
| Last updated: | 2022-11-05 |
| References |
|---|
| Personal communication; seen at CSC. |
Back