Diagnosis
Diagnostic criteria of Marfan syndrome were agreed upon internationally in 1996. A diagnosis of Marfan syndrome is based on family history and a combination of major and minor indicators of the disorder, rare in the general population, that occur in one individual — for example: four skeletal signs with one or more signs in another body system such as ocular and cardiovascular in one individual. The following conditions may result from Marfan syndrome, but may also occur in people without any known underlying disorder.
- Aortic aneurysm or dilation
- Arachnodactyly
- GERD
- Bicuspid aortic valve
- Cysts
- Cystic medial necrosis
- Degenerative disk disease
- Deviated septum
- Dural ectasia
- Early cataracts
- Early glaucoma
- Early osteoarthritis
- Ectopia lentis
- Emphysema
- Eye iris coloboma
- Above-average height
- Heart palpitations
- Hernias
- High palate
- Hypermobility of the joints
- Kyphosis (hunched back)
- Leaky heart valve
- Malocclusion
- Micrognathia (small lower jaw)
- Mitral valve prolapse
- Myopia (near sightedness)
- Obstructive lung disease
- Osteopenia (low bone density)
- Pectus carinatum or excavatum
- Pes planus (flat feet)
- Pneumothorax (collapsed lung)
- Retinal detachment
- Scoliosis
- Sleep apnea
- Stretch marks not from pregnancy or obesity
- Teeth crowded
- "Narrow, thin face"
- Temporomandibular joint disorder (TMD)
Read more about this topic: Marfan Syndrome