The Scoring of Systemic Features of Marfan Syndrome is a clinical tool designed to aid in the diagnosis of Marfan syndrome, a genetic disorder affecting the body's connective tissue. The tool's primary utility lies in its ability to quantify the presence and severity of systemic features associated with the syndrome, thereby facilitating a more objective and standardized diagnosis.
The scoring system incorporates a range of physical features and clinical manifestations associated with Marfan syndrome. These are grouped into four categories: extremity features, chest features, spinal features, and other features.
Extremity features include signs such as wrist or thumb sign, reduced elbow extension, reduced upper segment/lower segment ratio, hindfoot deformity, plain pes planus, and protrusio acetabuli. Chest features encompass pectus carinatum deformity, pectus excavatum or chest asymmetry, and pneumothorax. Spinal features include dural ectasia and scoliosis or thoracolumbar kyphosis.
The 'other features' category is more diverse, including facial features (such as dolichocephaly, enophthalmos, downslanting palpebral fissures, malar hypoplasia, retrognathia), skin striae, myopia greater than 3 diopters, and mitral valve prolapse.
Each feature is assigned a score reflecting its diagnostic significance, and the total score is used to assess the likelihood of a Marfan syndrome diagnosis. However, the scoring system does not replace clinical judgment and should be used in conjunction with other diagnostic tools and clinical findings.
Reference
Loeys BL, Dietz HC, Braverman AC et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010 Jul;47(7):476-85.
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