MUTATION: FBN1
DISORDER NAME: MFS - Marfan syndrome
CLASSIFICATION: Connective Tissue Disorder
MOLECULAR PATHWAY: Extra Cellular Matrix (ECM)
features
CARDIOVASCULAR
Aorta
- Thoracic aortic aneurysm and dissection (TAAD) (Enlargement, ballooning of aorta and dissection)
- Aortic root dissection
- Descending thoracic aortic dissection (before age 50)
- Abdominal aortic dissection (before age 50)
- Enlarged pulmonary artery without known cause (before age 40)
- Arterial tortuosity observed
Heart
- Mitral valve prolapse and/or regurgitation (MVP)
- Calcium deposits on MV(before age 40)
- Aortic regurgitation
Lungs
- Spontaneous pneumothorax
- Apical blebs – extra large air sacs at the top of the lungs
EYES
- Ectopia Lentis/Dislocated lenses at all ages
- Retinal detachment
- Severe myopia (blurred distance vision)
- Glaucoma
- Astigmatism
- Amblyopia (eye not developing normally in childhood)
- Early cataracts (sometimes before age 40)
SKELETAL SYSTEM
- Pectus carinatum
- Pectus excavatum
- Arm span greater than height
- Short torso
- Scoliosis
- Positive thumb and wrist sign
- Spondylolisthesis
- Flat feet
- Extra deep hip sockets
- Very flexible joints
- Arched palate and crowded teeth
- Facial features: long thin face, deep set and/or down slanting eyes, receding chin
CENTRAL NERVOUS SYSTEM
- Dural ectasia – swelling of the sac around the spinal column
SKIN
- Stretch marks (not related to weight gain or pregnancy)