Table 2.
Prevalence of clinical features segregated into categories according to the literature.
| Clinical features | n (%) |
|---|---|
| Primary criteria | 58 (100) |
| Hypertelorism | 55 (94.8) |
| Short stature | 48 (82.8) |
| Shawl scrotum | 46 (79.3) |
| Anteverted nostrils/short nose | 44 (75.9) |
| Brachydactyly/wide fingers | 36 (62.1) |
| Clinodactyly | 25 (43.1) |
| Short/broad hands | 23 (39.7) |
| Interdigital webbing | 20 (34.5) |
| Camptodactyly | 19 (32.8) |
| Syndactyly | 14 (24.1) |
| Bottom lip fold | 3 (5.2) |
|
| |
| Secondary criteria | |
| Ptosis | 34 (58.6) |
| Cryptorchidism | 29 (50.0) |
| Joint hypermobility | 29 (50.0) |
| Widow's peak | 27 (46.6) |
| Dysplastic ears | 24 (41.4) |
| Downward slanting palpebral fissures | 23 (39.7) |
| Inguinal hernia | 21 (36.2) |
| Wide feet | 18 (31.0) |
| Umbilical hernia | 9 (15.5) |
| Prominent umbilicus | 4 (6.9) |
|
| |
| Additional criteria | |
| Long philtrum | 32 (55.2) |
| Simian creases | 20 (34.5) |
| Frontal bossing | 16 (27.6) |
| Midface hypoplasia | 12 (20.7) |
| Developmental delay | 10 (17.2) |
| Bone age retarded | 7 (12.1) |
| Obesity | 6 (10.3) |
| Dental malocclusion | 3 (5.2) |
| Hypospadias | 1 (1.7) |
|
| |
| Others | |
| Metatarsus varus | 13 (22.4) |
| Crease below the lower lip | 11 (19.0) |
| Low set ears | 11 (19.0) |
| Round face | 10 (17.2) |
| Interphalangeal joint contracture | 9 (15.5) |
| Ogival palatus | 9 (15.5) |
| Pectus excavatum | 8 (13.8) |
| Broad nasal ridge | 7 (12.1) |
| Micrognathia | 7 (12.1) |
| Short neck | 7 (12.1) |
| ADHD | 6 (10.3) |