Table 1 Clinical signs and symptoms of 100 consecutive patients presenting for genetic services with features of a connective tissue disorder
From: Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study
System | Clinical feature | Patients presenting with clinical features (%) |
|---|---|---|
Skeletal | Limb Asymmetry | 30 |
Scoliosis | 23 | |
Pes Planus | 14 | |
Spine Anomaly | 9 | |
Chest Deformity | 7 | |
Kyphosis | 2 | |
Connective Tissue | Joint Hypermobility | 79 |
Joint Subluxation | 51 | |
Dental Defects | 15 | |
Temporomandibular Joint Dysfunction | 14 | |
Repeated Ligament & Cartilage Damage | 14 | |
Skin | Hyperextensible/Loose Skin | 69 |
Easy Bruising/Bleeding | 59 | |
Poor Wound Healing/Striae | 37 | |
Eye | Myopia | 29 |
Cataracts | 4 | |
Corneal Defect | 2 | |
Glaucoma | 1 | |
Nervous | Migraines | 28 |
Chronic Fatigue | 19 | |
Neuropathy | 14 | |
Tinnitus | 13 | |
Gastrointestinal | Irritable Bowel Syndrome | 17 |
Food Intolerance | 16 | |
Chronic Constipation/Diarrhea | 12 | |
Celiac | 9 | |
Cardiovascular | Cardiac Valve/Septal Defect | 17 |
Peripheral Vascular Disease | 9 | |
Postural Orthostatic Tachycardia Syndrome | 7 | |
Aneurysm | 3 |