X-Linked Alpha Thalassemia Mental Retardation Syndrome (ATR-X) X-Linked Alpha Thalassemia Family Support Network
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ATR-X Clinical Findings

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

Email: atr-x_family@mailcity.com