X-Linked Alpha Thalassemia Mental Retardation Syndrome (ATR-X)
Description | % of persons with features |
---|---|
FACIAL ANOMALIES | |
Telecanthus | |
Relative telecanthus | |
Epicanthic Folds | |
Flat Nasal Bridges | |
Mid Face Hypoplasia | |
Small Triangular Nose | |
Anteverted Nares | |
Triangular Mouth | |
Wide Spaced Incisors | |
Abnormal Ears | |
GENITAL ABNORMALITIES | |
Small Soft Testes | |
High Lying/Late Descent | |
Cryptorchidism | |
Inguinal Hernia/Hydrocoele | |
Hypoplastic Scrotum | |
Shawl Scrotum | |
Deficient Prepuce | |
Small Penis | |
Hypospadias | |
Ambiguous Genitalia | |
SKELETAL ABNORMALITIES | |
CLINICAL | |
Clindactyly |