Table 1.
The syndrome class distribution of the facial data used in this study as well as per-syndrome accuracy statistics for the top performing 2D and 3D models.
| Syndrome | Count | Top-1 Accuracy (%) 2D Color (Arcface + MLP) | Top-1 Accuracy (%) 3D Surface (PCA + MLP) |
|---|---|---|---|
| Marfan | 118 | 46.3 (11.3) | 56.6 (6.1) |
| Ehlers Danlos | 98 | 35.2 (8.6) | 39.3 (5.6) |
| Turner | 89 | 42.2 (12.1) | 63.0 (7.4) |
| CHARGE | 87 | 45.4 (6.6) | 61.5 (10.3) |
| Neurofibromatosis | 75 | 19.1 (5.9) | 24.3 (10.1) |
| Williams | 67 | 50.0 (12.6) | 71.0 (5.8) |
| 22q11.2 Del | 61 | 32.2 (8.2) | 37.8 (12.4) |
| Loeys Dietz | 56 | 22.4 (8.6) | 25.9 (9.6) |
| Down | 56 | 67.1 (14.2) | 81.2 (6.9) |
| Klinefelter | 56 | 42.4 (6.9) | 44.7 (13.7) |
| Phelan McDermid | 55 | 35.3 (5.3) | 27.1 (11.3) |
| Noonan | 54 | 22.5 (12.9) | 40.0 (6.4) |
| Cornelia de Lange | 52 | 57.5 (4.7) | 58.8 (9.4) |
| Achondroplasia | 51 | 53.3 (10.3) | 73.3 (11.2) |
| Rett | 50 | 28.0 (20.0) | 26.7 (7.3) |
| Jacobsen | 50 | 21.3 (8.8) | 26.7 (9.4) |
| Mucopolysaccharidosis | 50 | 46.7 (9.4) | 34.7 (5.0) |
| Costello | 48 | 44.3 (12.3) | 50.0 (14.3) |
| Joubert | 46 | 12.9 (8.3) | 30.0 (5.3) |
| Sotos | 44 | 43.1 (3.8) | 66.2 (7.8) |
| 5p Del Cri du Chat | 43 | 36.0 (9.0) | 61.5 (10.9) |
| Cardiofaciocutaneous | 36 | 32.7 (13.6) | 25.5 (13.4) |
| Stickler | 36 | 5.5 (4.5) | 16.4 (14.5) |
| Cockayne | 34 | 68.0 (7.5) | 76.0 (15.0) |
| Kabuki | 34 | 46.0 (13.6) | 34.0 (16.2) |
| Cleft Lip Palate | 33 | 12.0 (4.0) | 20.0 (8.9) |
| Treacher Collins | 31 | 44.4 (12.2) | 53.3 (17.8) |
| Rhizomelic Chondro Punctata | 30 | 57.8 (10.9) | 66.7 (7.0) |
| Osteogenesis Imperfecta | 29 | 15.6 (11.3) | 26.7 (11.3) |
| Trisomy 18 | 28 | 45.0 (10.0) | 45.0 (17.0) |
| 4p Del Wolff-Hirschhorn | 28 | 52.5 (14.6) | 52.5 (14.6) |
| Pitt Hopkins | 28 | 42.5 (20.3) | 45.0 (12.7) |
| X Linked Hypohidrotic Ectodermal | 27 | 47.5 (9.4) | 55.0 (12.7) |
| Goldenhar | 26 | 12.5 (7.9) | 37.5 (7.9) |
| Fragile X | 25 | 2.5 (5.0) | 17.5 (12.7) |
| Cohen | 25 | 62.5 (19.4) | 55.0 (26.2) |
| Smith Lemli Opitz | 24 | 17.1 (14.0) | 34.3 (28.0) |
| Prader-Willi | 22 | 17.1 (10.7) | 22.9 (19.4) |
| Crouzon | 22 | 28.6 (9.0) | 25.7 (16.7) |
| 1p36 Del | 22 | 11.4 (10.7) | 14.3 (15.6) |
| Pierre Robin Sequence | 21 | 3.3 (6.7) | 10.0 (8.2) |
| Rubinstein Taybi | 20 | 16.7 (10.5) | 26.7 (20.0) |
| Coffin Siris | 20 | 23.3 (8.2) | 16.7 (14.9) |
Mean accuracy is reported as a percentage and standard deviations across cross-validation folds are shown in parentheses.