TGFB3
| Percentage | Cases | |
|---|---|---|
| Gender | ||
| Male | 52.7% | 39/74 |
| Female | 47.3% | 35/74 |
| Indifferent | 0% | 0/74 |
| Unknown | 0% | 0/74 |
| General | ||
| Birth Length abnormalities | 2.7% | 2/74 |
| > P98 : Birth length greater than 97th percentile | 2.7% | 2/74 |
| Birth Weight abnormalities | 0% | 0/74 |
| Birth Head circumference abnormalities | 0% | 0/74 |
| Current Height abnormalities | 39.2% | 29/74 |
| > P98 : Tall stature | 37.8% | 28/74 |
| < P3 : Short stature | 1.4% | 1/74 |
| Current Weight abnormalities | 2.7% | 2/74 |
| < P3 : Decreased body weight | 2.7% | 2/74 |
| Current Head circumference abnormalities | 0% | 0/74 |
| Neurology | ||
| Neurological abnormalities | 6.8% | 5/73 |
| Muscular hypotonia | 5.5% | 4/73 |
| Hemiparesis | 1.4% | 1/73 |
| Brain abnormality | 2.7% | 2/74 |
| Cerebral aneurysm | 1.4% | 1/74 |
| Intracranial hemorrhage | 1.4% | 1/74 |
| Facial abnormalities | ||
| Abnormality of the ear | 2.7% | 2/74 |
| Low-set ears | 1.4% | 1/74 |
| Macrotia | 1.4% | 1/74 |
| Abnormality of the eye | 45.9% | 34/74 |
| Hypertelorism | 35.1% | 26/74 |
| Downslanted palpebral fissures | 18.9% | 14/74 |
| Blue sclerae | 8.1% | 6/74 |
| Proptosis | 4.1% | 3/74 |
| Ptosis | 2.7% | 2/74 |
| Amblyopia | 1.4% | 1/74 |
| Flat cornea | 1.4% | 1/74 |
| Abnormality of the nose | 2.7% | 2/74 |
| Long nose | 1.4% | 1/74 |
| Triangular nasal tip | 1.4% | 1/74 |
| Abnormality of the mouth | 70.3% | 52/74 |
| Bifid uvula | 37.8% | 28/74 |
| Retrognathia | 21.6% | 16/74 |
| High, narrow palate | 18.9% | 14/74 |
| Cleft palate | 13.5% | 10/74 |
| High palate | 10.8% | 8/74 |
| Dental crowding | 8.1% | 6/74 |
| Broad uvula | 2.7% | 2/74 |
| Narrow palate | 2.7% | 2/74 |
| Short chin | 2.7% | 2/74 |
| Smooth philtrum | 2.7% | 2/74 |
| Abnormality of the teeth | 1.4% | 1/74 |
| Overbite | 1.4% | 1/74 |
| Short philtrum | 1.4% | 1/74 |
| Thin vermilion border | 1.4% | 1/74 |
| Thin upper lip vermilion | 1.4% | 1/74 |
| Visual and hearing impairments | ||
| Abnormal vision | 24.3% | 18/74 |
| Myopia | 17.6% | 13/74 |
| Cataract | 5.4% | 4/74 |
| Hypermetropia | 2.7% | 2/74 |
| Dyschromatopsia | 1.4% | 1/74 |
| Exotropia | 1.4% | 1/74 |
| Strabismus | 1.4% | 1/74 |
| Heart | ||
| Abnormality of the heart | 59.7% | 43/72 |
| Mitral valve prolapse | 16.7% | 12/72 |
| Aortic root dilatation | 15.3% | 11/72 |
| Thoracic aortic aneurysm | 12.5% | 9/72 |
| Aortic dissection | 9.7% | 7/72 |
| Mitral regurgitation | 9.7% | 7/72 |
| Sinus of Valsalva aneurysm | 4.2% | 3/72 |
| Varicose veins | 4.2% | 3/72 |
| Aneurysm | 2.8% | 2/72 |
| Aortic aneurysm | 2.8% | 2/72 |
| Aortic regurgitation | 2.8% | 2/72 |
| Ascending aortic dissection | 2.8% | 2/72 |
| Patent foramen ovale | 2.8% | 2/72 |
| Abdominal aortic aneurysm | 1.4% | 1/72 |
| Abnormality of the left ventricle | 1.4% | 1/72 |
| Aortic dilatation | 1.4% | 1/72 |
| Arrhythmia | 1.4% | 1/72 |
| Ascending aortic dilation | 1.4% | 1/72 |
| Atria septal defect | 1.4% | 1/72 |
| Carotid artery tortuosity | 1.4% | 1/72 |
| Descending aortic dissection | 1.4% | 1/72 |
| Dilated cardiomyopathy | 1.4% | 1/72 |
| Dilatation of the descending thoracic aorta | 1.4% | 1/72 |
| Paroxysmal supraventricular tachycardia | 1.4% | 1/72 |
| Right bundle branch block | 1.4% | 1/72 |
| Tricuspid valve prolapse | 1.4% | 1/72 |
| Tricuspid regurgitation | 1.4% | 1/72 |
| Ventricular septal defect | 1.4% | 1/72 |
| Gastrointestinal | ||
| Gastrointestinal abnormalities | 2.7% | 2/74 |
| Chronic diarrhea | 1.4% | 1/74 |
| Hiatus hernia | 1.4% | 1/74 |
| Skeleton | ||
| Skeletal abnormalities | 82.4% | 61/74 |
| Arachnodactyly | 50.0% | 37/74 |
| Pes planus | 39.2% | 29/74 |
| Joint hypermobility | 32.4% | 24/74 |
| Scoliosis | 25.7% | 19/74 |
| Increased arm span | 18.9% | 14/74 |
| Pectus excavatum | 17.6% | 13/74 |
| Pectus carinatum | 12.2% | 9/74 |
| Decreased muscle mass | 6.8% | 5/74 |
| Dolichocephaly | 6.8% | 5/74 |
| Kyphoscoliosis | 6.8% | 5/74 |
| Joint laxity | 5.4% | 4/74 |
| Osteoarthritis | 5.4% | 4/74 |
| Talipes equinovarus | 5.4% | 4/74 |
| Abnormality of the sternum | 4.1% | 3/74 |
| Kyphosis | 4.1% | 3/74 |
| Spondylolisthesis | 4.1% | 3/74 |
| Bilateral coxa valga | 2.7% | 2/74 |
| Hallux valgus | 2.7% | 2/74 |
| Hip dysplasia | 2.7% | 2/74 |
| Osteoporosis | 2.7% | 2/74 |
| Pes cavus | 2.7% | 2/74 |
| Abnormality of the cervical spine | 1.4% | 1/74 |
| Abnormality of the breast | 1.4% | 1/74 |
| Camptodactyly | 1.4% | 1/74 |
| Camptodactyly of toe | 1.4% | 1/74 |
| Cervical ribs | 1.4% | 1/74 |
| Cervical spondylosis | 1.4% | 1/74 |
| Contracture of the proximal interphalangeal joint of the 4th toe | 1.4% | 1/74 |
| Contractures of the proximal interphalangeal joint of the 5th toe | 1.4% | 1/74 |
| Disproportionate tall stature | 1.4% | 1/74 |
| Frontal bossing | 1.4% | 1/74 |
| Generalized joint laxity | 1.4% | 1/74 |
| Genu valgum | 1.4% | 1/74 |
| Hammertoe | 1.4% | 1/74 |
| Herniation of intervertebral nuclei | 1.4% | 1/74 |
| Hip osteoarthritis | 1.4% | 1/74 |
| Inguinal hernia | 1.4% | 1/74 |
| Long fingers | 1.4% | 1/74 |
| Long toe | 1.4% | 1/74 |
| Metatarsus adductus | 1.4% | 1/74 |
| Prominent metopic ridge | 1.4% | 1/74 |
| Protrusio acetabuli | 1.4% | 1/74 |
| Short neck | 1.4% | 1/74 |
| Slender build | 1.4% | 1/74 |
| Thoracic kyphosis | 1.4% | 1/74 |
| Skin / Hair / Nails | ||
| Abnormality of the skin/hair/nails | 34.2% | 25/73 |
| Bruising susceptibility | 20.5% | 15/73 |
| Dermal translucency | 15.1% | 11/73 |
| Soft skin | 15.1% | 11/73 |
| Thin skin | 15.1% | 11/73 |
| Poor wound healing | 5.5% | 4/73 |
| Striae distensae | 5.5% | 4/73 |
| Hyperextensible skin | 2.7% | 2/73 |
| Angioedema | 1.4% | 1/73 |
| Reduced subcutaneous adipose tissue | 1.4% | 1/73 |
| Endocrine / Immunological / Metabolic | ||
| Abnormality of the metabolic system | 1.4% | 1/74 |
| Hypokalemia | 1.4% | 1/74 |
| Abnormality of the immune system | 1.4% | 1/74 |
| Autoimmune thrombocytopenia | 1.4% | 1/74 |