Marfan's syndrome is characterised by the following
- It is a connective tissue disorder
- It is transmitted as an autosomal dominant trait
- Bones are normal
- Mitral valve prolapse and dilatation of the aortic root and sinus of Valsalva may be present
- There is no mental retardation
- There is superoateral subluxation of the lens
- It is an inborn error of metabolism, due to lack of the enzyme cystathionine synthase, leading to accumulation of homocystine and methionine and a deficiency of cystathionine and cystine
- It is transmitted as an autosomal recessive trait
- Mental defect is present
- Osteoporosis is present
- Medial degeneration of the aorta and elastic arteries may be present
- Arterial and venous thrombosis can occur
- Inferolateral subluxation of the lens is seen
