The seven new criteria can lead to a diagnosis:In the absence of a family history of MFS:

Aortic root Z-score ≥ 2 AND ectopia lentis
Aortic root Z-score ≥ 2 AND an FBN1 mutation
Aortic root Z-score ≥ 2 AND a systemic score* > 7 points
Ectopia lentis AND an FBN1 mutation with known aortic pathologyIn the presence of a family history of MFS (as defined above):

Ectopia lentis
Systemic score* ≥ 7
Aortic root Z-score ≥ 2Points for systemic score:
Wrist AND thumb sign = 3 (wrist OR thumb sign = 1)
Pectus carinatum deformity = 2 (pectus excavatum or chest asymmetry = 1)
Hindfoot deformity = 2 (plain pes planus = 1)
Dural ectasia = 2
Protrusio acetabuli = 2
pneumothorax = 2
Reduced upper segment/lower segment ratio AND increased arm/height AND no severe scoliosis = 1
Scoliosis or thoracolumbar kyphosis = 1
Reduced elbow extension = 1
Facial features (3/5) = 1 (dolichocephaly, enophthalmos, downslanting palpebral fissures, malar hypoplasia, retrognathia)
Skin striae (stretch marks) = 1
Myopia > 3 diopters = 1
Mitral valve prolapse = 1The thumb sign (Steinbergs sign) is elicited by asking the person to flex the thumb as far as possible and then close the fingers over it. A positive thumb sign is where the entire distal phalanx is visible beyond the ulnar border of the hand, caused by a combination of hypermobility of the thumb as well as a thumb which is longer than usual.The wrist sign (Walker-Murdoch sign) is elicited by asking the person to curl the thumb and fingers of one hand around the other wrist.
Often, the cause can be ascertained without performing tests.When blood tests are requested, they usually include thyroid tests and prolactin to rule out hypothyroidism and hyperprolactinemia. Other tests that may be considered include mammography, breast ultrasound, CT scan of the head to rule out a pituitary tumour, breast biopsy, x-ray imaging of breast ducts or skin biopsy.The absence of cancerous cells in samples of nipple discharge does not exclude cancer, hence cytology of the nipple discharge is not usually performed. However, guidance on investigations varies and tests are more likely performed if the discharge is bloody, from one breast, and the woman is age over 50. If the test is performed and malignant cells are found, an underlying cancer is highly likely. Treatment
Initially, an evaluation for cancer is indicated. Treatment will depend on the cause found, and may involve changing medication, having a lump removed, applying a cream to treat a skin condition or being given medication to treat the condition causing the discharge. Duct ectasia may be treated with surgical removal of the ducts involved. Infectious causes may require antibiotics and/or incision and drainage. Sometimes, no treatment is required.If no abnormality is found, a surgical duct excision may resolve the symptoms. Treatment also depends on whether single-duct or multiple-duct discharge is present, and whether the symptoms of nipple discharge are distressing to the person. In some cases, there may be no need for any further intervention; in others, microdochectomy or a total duct excision may be appropriate.