Review Article
The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review
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) |
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