Table 3.
Clinical Ehlers-Danlos Syndrome Characteristics of Subjects with CAH-X
| Parameter | CAH patients |
CAH carriers |
|||
|---|---|---|---|---|---|
| CAH-X CH-1 | CAH-X CH-2 | Biallelic | CAH-X CH-1 | CAH-X CH-2 | |
| n | 14 | 10 | 2 | 9 | 5 |
| Age, years | 17.2 ± 10.7 (4–39) | 13.1 ± 12.0 (2–44) | 16.0 ± 14.1 (6–26) | 46.9 ± 11.1 (30–63) | 40.8 ± 11.3 (21–49) |
| Females/males | 6/8 | 4/6 | 0/2 | 5/4 | 4/1 |
| Musculoskeletal | |||||
| Generalized hypermobility∗ | 7/13 | 5/10 | 2/2 | 4/9 | 2/5 |
| Small joint hypermobility | 5/14 | 5/10 | 1/2 | 4/9 | 1/5 |
| Large joint hypermobility | 3/14 | 4/10 | 1/2 | 1/9 | 1/5 |
| Subluxations | 4/14 | 3/10 | 1/2 | 3/9 | 0/5 |
| Chronic arthralgia | 4/14 | 2/10 | 2/2 | 4/9 | 1/5 |
| Chronic tendonitis, bursitis or fasciitis | 2/14 | 2/10 | 1/2 | 3/9 | 0/5 |
| Pes planus | 3/14 | 2/10 | 1/2 | 2/9 | 0/5 |
| Dermatologic | |||||
| Skin laxity | 1/14 | 2/10 | 2/2 | 0/9 | 0/5 |
| Wide scars | 0/14 | 2/10 | 1/2 | 0/9 | 0/5 |
| Piezogenic papules | 3/14 | 1/10 | 2/2 | 0/9 | 0/5 |
| Cardiac | |||||
| Congenital defect† | 3/13 | 3/7 | 0/2 | 3/8 | 0/5 |
| Chamber enlargement | 4/13 | 3/7 | 1/2 | 1/8 | 2/5 |
| Enlarged aortic root | 0/13 | 2/7 | 0/2 | 3/8 | 0/5 |
| Gastrointestinal disorder‡ | 1/14 | 1/10 | 1/2 | 1/9 | 1/5 |
| Hernia or prolapse | 0/14 | 4/10 | 1/2 | 3/9 | 1/5 |
Ages are shown as means ± SD (range), and rates of Ehlers-Danlos syndrome findings are shown as number of positives/number evaluated.
CAH-X, connective tissue dysplasia consistent with hypermobility-type Ehlers-Danlos syndrome due to a contiguous gene deletion involving the adjacent CYP21A2 and TNXB genes; CAH-X CH-1, CYP21A1P-TNXA/TNXB chimera with TNXB exons 35-44 replaced by TNXA; CAH-X CH-2, CYP21A1P-TNXA/TNXB chimera with TNXB exons 40-44 replaced by TNXA.
Generalized hypermobility defined as a Beighton score of 5 of 9 or greater in children and of 4 of 9 or greater in postpubertal adolescents and adults.
Congenital heart defect includes mitral leaflet thickening, structural valve abnormality, left ventricular diverticulum, and patent foramen ovale.
Includes gastroesophageal reflux, irritable bowel syndrome, chronic constipation, and diverticulitis.