X-Linked Alpha Thalassemia Mental Retardation Syndrome (ATR-X)
Characteristic | % |
---|---|
Facial Anomalies | |
Telecanthus | 32% | Relative Telecanthus | 92% | Epicanthic Folds | 84% | Flat Nasal Bridge | 72% | Mid-Face Hypoplasia | 88% | Small Triangular Nose | 87% | Anteverted nares | 89% | Triangular Mouth | 98% | Wide Spaced incisors | 67% | Abnormal Ears | 78% | Genital Abnormalities | Small Soft Testes | 18% | High lying/late descent | 13% | Cryptorchidism | 69% | Inguinal hernia/hydrocoele | 20% | Hypoplastic scrotum | 20% | Shawl scrotum | 4% | Deficient prepuce | 13% | Small penis | 22% | Hypospadias | 18% | Ambiguous genitalia | 11% | Skeletal Abnormalities | Clinical |