Manifestations of Turner syndrome. | |
| Affected Systems | Symptom, Sign, or Condition |
|---|---|
| Head and neck features | High-arched palate (35%) Low posterior hairline (40%) Micrognathia (60%) Pterygium colli (webbed neck 40%) |
| Eye abnormalities | Cataracts, corneal opacities Epicanthal folds (20%) Strabismus (15%) Ptosis (10%) |
| Ear abnormalities | Conductive hearing loss (30%) and recurrent otitis media (60%) Low-set and posteriorly rotated ears |
| Cardiovascular anomalies | Aortic dilation or aneurysm (25% with bicuspid aortic valve) Bicuspid aortic valve (30%) with aortic stenosis or regurgitation Coarctation (14%) and cystic medial necrosis of aorta Hypertension (50%, idiopathic or due to coarctation or kidney disease) Partial anomalous pulmonary venous return (18%) |
| GI disorders | Achlorhydria Celiac disease (8%) Colon carcinoma Hepatic transaminases, elevated (65%) IBD (3%) Telangiectasias with bleeding |
| Kidney abnormalities (60%) | Horseshoe kidney (10%), duplication or abnormal positioning of renal pelvis or ureters (15%) |
| Gonadal abnormalities | Gonadal dysgenesis (primary amenorrhea 80%) or early ovarian failure (20%) |
| Skeletal and extremity abnormalities | Short stature (98%) Broad (shield) chest (30%) with wide-spaced hypoplastic nipples Cubitus valgus of arms (50%) and knock knees (35%) Lymphedema of hands and feet (30%) Madelung wrist deformity (5%) Osteopenia (65%) Scoliosis (10%) Short fourth metacarpals (40%) |
| CNS disorders | Emotional immaturity (40%) Learning disabilities and ADHD (40%) Sensorineural hearing loss |
| Skin and nail disorders | Hyperconvex nails Keloid formation Pigmented nevi |
| Associated conditions | Autoimmune (Hashimoto) thyroiditis (37%) Diabetes mellitus (10%) or glucose intolerance (35%) Dyslipidemia Hyperuricemia Neuroblastoma (1%) Obesity Rheumatoid arthritis |