Amish, Mennonite, and Hutterite
Genetic Disorder Database

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, anterior chest deformity, mild to moderate joint laxity, vertebral column deformity (scoliosis and thoracic lordosis), narrow highly arched palate with crowding of the teeth, myopia, increased axial globe length, corneal flatness, subluxation of the lenses (ectopia lentis), mitral valve prolapse, mitral regurgitation, dilatation of the aortic root, aortic regurgitation  
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: FBN1
Base Change: del.C, at nucleotide 3704
Amino Acid Change:
Last updated: 2019-07-03 

References
Personal communication; seen at CSC.  

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