Marfan's Syndrome

This is an inherited connective tissue disorder with characteristic skeletal, dermatological, cardiac, aortic, ocular and dural malformations. It is caused by a variety of mis-sense mutations in gene encoding for fibrillin 1, an elastin-matrix glycoprotein essential for the formation of cellular microfibrils. The gene is located on the long arm of chromosome 15. The pattern of transmission is autosomal dominant with complete penetrance. There is much variation in genotype. Phenotype varies within and between families with the same genetic abnormality, leading to protean and variable manifestations of the condition in given individuals.


Prevalence
This is 2-3 per 10,000 of population, affecting both sexes equally.
The prevalence is similar worldwide, regardless of geography or ethnicity.
It is the most common genetic disorder of connective tissue.

Risk factors
Around two-thirds of cases are due to familial transmission. In the remainder there are sporadic mutations, associated with advanced paternal age.4 Fathers of children with sporadic mutations are, on average, 5-10 years older than the mean.
Presentation
The diagnosis is predominantly clinical although advances in genetic and molecular characterisation are allowing these tests to contribute to diagnostic certainty. However, basing diagnosis solely on molecular data is not possible as mutation detection is far from perfect and some mutations of fibrillin do not cause the syndrome. There are two major sets of diagnostic criteria, each with its own proponents.

Symptoms
The condition can be asymptomatic. Patients are disproportionately tall and thin with unusually long arms and legs compared to their trunk (dolichostenomelia) and a 'cadaverous' physique. They often have long 'spidery' fingers and toes (arachnodactyly).
Signs
The main clinical features are:
Skin - striae, especially thoracolumbar and sacral
Heart and blood vessels - thoracic aortic dilatation/rupture/dissection, aortic and mitral valve prolapse, mitral regurgitation, abdominal aortic aneurysm, cardiac dysrhythmia
Eyes - lens dislocation, closed angle glaucoma, high myopia
Joints - hypermobility, arthralgia, instability
Skeleton - pectus excavatum or carinatum deformities, misshapen chest, kyphoscoliosis
Arachnodactyly - the following signs may be used to demonstrate this:
Walker's (wrist) sign - the patient encircles their wrist with the little finger and thumb of the opposite hand overlapped5
Steinberg's thumb sign - a flexed thumb grasped within a clenched palm protrudes beyond the ulnar border of that hand5
Facial characteristics - maxillary/mandibular retrognathia, long face and high, arched palate are important and relatively discriminating signs of the condition6,7
Miscellaneous - dural ectasia hernias (present with low back pain and symptoms akin to cauda equina syndrome or chronic postural headache due to CSF leakage), pleural rupture causing pneumothorax, finger contractures

I have so manyy of the features of Marphans yet they mention it do the tests but still say hmmm i dunno...............