| Diseases | Rating | Bibliogr. | Expand | |
|---|---|---|---|---|
| 1 | Bloom Syndrome | 100 | + + | |
| 2 | Branchio-Oto-Renal Syndrome | 86 | + + | |
| 3 | Gardner Syndrome | 69 | + + | |
| 4 | Carney Complex | 67 | + + | |
| 5 | Beckwith-Wiedemann Syndrome | 66 | + + | |
| 6 | Down Syndrome | 63 | + + | |
| 7 | Basal Cell Nevus Syndrome | 50 | + + | |
| 8 | Ectodermal Dysplasia | 27 | + + | |
| 9 | Nevus, Sebaceous of Jadassohn | 25 | + + | |
| 10 | 22q11 Deletion Syndrome | 24 | + + | |
| 11 | Marfan Syndrome | 21 | + + | |
| 12 | Proteus Syndrome | 21 | + + | |
| 13 | Holoprosencephaly | 19 | + + | |
| 14 | Cockayne Syndrome | 17 | + + | |
| 15 | Cri-du-Chat Syndrome | 11 | + + | |
| 16 | Orofaciodigital Syndromes | 11 | + + |