Marfan+Syndrome

=__Causes: __=


 * Gene: Fibrillin-1 [[image:F1.medium.gif align="right" caption="Fibrillin-1"]]
 * Chromosome #15
 * Autosomal Dominant

=__What is the Pattern of Inheritance?__ =


 * Dominant pattern
 * At least 25% cases result in new mutation (no history in family).
 * Copy of altered gene is sufficient to cause the disorder.

=__Characteristics of the Disorder: __=


 * Other names: [[image:9611.jpg align="right" caption="Indented breast bone; long fingers."]]
 * Pectus Excavatum
 * MFS
 * Marfan Syndrome, Type 1
 * Arachnodactlyly
 * 1-10 per 100,000 live births.
 * Can live a little over 60+ years of age (longer with surgery).
 * Traits/Behaviors/Characteristics:
 * Tall and slender
 * Loose jointed
 * Disproportionately long to rest of body.
 * Long narrow face
 * Roof of mouth may be arched and teeth crowding.
 * Breast bone indented.
 * Scoliosis
 * Flat feet

Works Cited: http://www.nlm.nih.gov/medlineplus/ency/images/ency/fullsize/9611.jpg http://www.beltina.org/pics/marfan_syndrome.jpg http://jmg.bmj.com/content/43/10/769.full