SMAD3
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 51.9% | 28/54 |
| Female | 48.1% | 26/54 |
| Indifferent | 0% | 0/54 |
| Unknown | 0% | 0/54 |
| General | ||
| Birth Length abnormalities | 0% | 0/54 |
| Birth Weight abnormalities | 0% | 0/54 |
| Birth Head circumference abnormalities | 0% | 0/54 |
| Current Height abnormalities | 0% | 0/54 |
| Current Weight abnormalities | 0% | 0/54 |
| Current Head circumference abnormalities | 0% | 0/54 |
| Neurology | ||
| Behavioral problems | 16.7% | 3/18 |
| Attention deficit hyperactivity disorder | 11.1% | 2/18 |
| Autism | 5.6% | 1/18 |
| Facial abnormalities | ||
| Abnormality of the eye | 25.6% | 10/39 |
| Hypertelorism | 23.1% | 9/39 |
| Prominent epicanthal folds | 2.6% | 1/39 |
| Proptosis | 2.6% | 1/39 |
| Abnormality of the nose | 4.3% | 1/23 |
| Depressed nasal bridge | 4.3% | 1/23 |
| Wide nasal bridge | 4.3% | 1/23 |
| Abnormality of the mouth | 46.2% | 18/39 |
| Abnormality of the palate | 25.6% | 10/39 |
| Broad uvula | 10.3% | 4/39 |
| Abnormality of the uvula | 2.6% | 1/39 |
| Bifid uvula | 2.6% | 1/39 |
| High, narrow palate | 2.6% | 1/39 |
| High palate | 2.6% | 1/39 |
| Premature loss of teeth | 2.6% | 1/39 |
| Visual and hearing impairments | ||
| Abnormal hearing | 2.0% | 1/49 |
| Hearing impairment | 2.0% | 1/49 |
| Abnormal vision | 4.1% | 2/49 |
| Blurred vision | 2.0% | 1/49 |
| Strabismus | 2.0% | 1/49 |
| Heart | ||
| Abnormality of the heart | 86.5% | 45/52 |
| Aortic aneurysm | 36.5% | 19/52 |
| Aneurysm | 28.8% | 15/52 |
| Arterial tortuosity | 28.8% | 15/52 |
| Abnormality of the mitral valve | 26.9% | 14/52 |
| Aortic root dilatation | 7.7% | 4/52 |
| Ascending aortic dilation | 7.7% | 4/52 |
| Aortic dissection | 5.8% | 3/52 |
| Abnormal heart morphology | 3.8% | 2/52 |
| Aortic valve stenosis | 3.8% | 2/52 |
| Ascending aortic dissection | 3.8% | 2/52 |
| Descending aortic dissection | 3.8% | 2/52 |
| Sinus of Valsalva aneurysm | 3.8% | 2/52 |
| Thoracic aortic aneurysm | 3.8% | 2/52 |
| Abdominal aortic aneurysm | 1.9% | 1/52 |
| Abnormality of the systemic arterial tree | 1.9% | 1/52 |
| Aortic tortuosity | 1.9% | 1/52 |
| Aortic regurgitation | 1.9% | 1/52 |
| Atria septal defect | 1.9% | 1/52 |
| Cardiomegaly | 1.9% | 1/52 |
| Carotid artery aneurysm | 1.9% | 1/52 |
| Coronary artery stenosis | 1.9% | 1/52 |
| Ischemic stroke | 1.9% | 1/52 |
| Left ventricular hypertrophy | 1.9% | 1/52 |
| Mitral valve prolapse | 1.9% | 1/52 |
| Mitral regurgitation | 1.9% | 1/52 |
| Myocardial infarction | 1.9% | 1/52 |
| Pericarditis | 1.9% | 1/52 |
| Ventricular fibrillation | 1.9% | 1/52 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 2.1% | 1/47 |
| Gastroesophageal reflux | 2.1% | 1/47 |
| Urogenital | ||
| Abnormality of the urogenital system | 14.6% | 7/48 |
| Cystocele | 14.6% | 7/48 |
| Skeleton | ||
| Skeletal abnormalities | 93.0% | 40/43 |
| Intervertebral disc degeneration | 53.5% | 23/43 |
| Osteoarthritis | 51.2% | 22/43 |
| Scoliosis | 34.9% | 15/43 |
| Abnormality of the sternum | 9.3% | 4/43 |
| Pes planus | 9.3% | 4/43 |
| Pectus excavatum | 7.0% | 3/43 |
| Hip osteoarthritis | 4.7% | 2/43 |
| Joint laxity | 4.7% | 2/43 |
| Abnormality of the intervertebral disk | 2.3% | 1/43 |
| Genu valgum | 2.3% | 1/43 |
| Hernia | 2.3% | 1/43 |
| Joint hypermobility | 2.3% | 1/43 |
| Joint hyperflexibility | 2.3% | 1/43 |
| Knee osteoarthritis | 2.3% | 1/43 |
| Kyphosis | 2.3% | 1/43 |
| Lumbar spinal canal stenosis | 2.3% | 1/43 |
| Osteoarthritis of the elbow | 2.3% | 1/43 |
| Osteoarthritis of the small joints of the hand | 2.3% | 1/43 |
| Thoracic scoliosis | 2.3% | 1/43 |
| Valgus foot deformity | 2.3% | 1/43 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 59.6% | 28/47 |
| Varicose veins | 29.8% | 14/47 |
| Soft skin | 27.7% | 13/47 |
| Striae distensae | 12.8% | 6/47 |
| Bruising susceptibility | 4.3% | 2/47 |
| Dermal translucency | 2.1% | 1/47 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the immune system | 25.0% | 2/8 |
| Arthritis | 12.5% | 1/8 |
| Rheumatoid arthritis | 12.5% | 1/8 |