Table 2. Checklist for the clinical diagnosis of the Marfan syndrome using Ghentnosology (taken from [10]).
| Manifestations in the major criterion | Manifestations in the minor criterion | Diagnosis (definition) |
| Skeleton | ||
| Pigeon breast | Funnel chest, mild | Major criterion fulfilled (≥ 4 manifestations in the major criterion) |
| Funnel chest, requiring surgery | Hypermobile joints | Skeletal involvement (2 manifestations in the major criterion or 1 manifestation in the major criterion and 2 in the minor criterion) |
| Ratio of arm span to height >1.05 and/or upper length to lower length <0.85 | High (gothic) palate with malposition of the teeth due to restricted space | |
| Positive wrist and thumb sign*1 | Physiognomy (≥ 2):
|
|
| Club foot from medial displacement of the inside ankle | ||
| Scoliosis >20° or slipping of a vertebra | ||
| Extensibility of elbow joint <170° | ||
| Protrusio acetabuli (radiological) | ||
| Eye | ||
| Lens luxation or subluxation | Cornea abnormally flat | Major criterion fulfilled |
| Eyeball with axial length >23.5 mm | Eye involvement (≥2 manifestations in the minor criterion) | |
| Iris/ciliary muscle hypoplastic with restricted miosis | ||
| Cardiovascular system | ||
| Aneurysm of the ascending aorta, affecting at least the sinus | Mitral valve prolapse, independent of mitral valve insufficiency | Major criterion fulfilled |
| Dissection of the ascending aorta | Pulmonary artery dilatation, aged under 40 (after exclusion of pulmonary valve stenosis) | Cardiovascular involvement (≥1 manifestation in the minor criterion) |
| Mitral valve calcification, aged under 40 | ||
| Dilation or dissection of the descending or abdominal aorta, aged under 50 | ||
| Lung | ||
| Spontaneous pneumothorax | Cardiovascular involvement (≥1 manifestation in the minor criterion) | |
| Apical blebs (X-rays) | ||
| Skin | ||
| Striae distensae | Skin involvement (≥1 manifestation in the minor criterion) | |
| Recurrent hernias or postoperative hernias | ||
| Dura | ||
| Lumbosacral dural ectasia | Major criterion fulfilled | |
| Family history/genetics | ||
| First degree relatives with MFS | Major criterion fulfilled (≥1) | |
| FBN1 mutation relevant to disease | ||
| Linked haplotype demonstrated | ||
| The diagnosis of Marfan syndrome (MFS) is made when the following criteria are fulfilled: | ||
| One major criterion in two organ systems and a third system is involved; or mutation relevant to disease, as well as one major criterion and one organ involvement; or one relative with Marfan syndrome and one major criterion and one organ involvement | ||
*1 Positive wrist sign: one wrist can be grasped with the thumb and little finger of the other hand in such a way that the body of the thumb overlaps the finger nail of the little finger;
positive thumb sign: the body of the thumb protrudes from the lateral edge of the hand when the thumb is laid in the palm and the fist is closed (figure 1).