Phenotype #0000228726
| Individual ID |
00301626 |
| Associated disease |
EDS |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Initial |
musculocontractural EDS |
| Age/Examination |
20y (20 years) |
| Diagnosis/Definite |
EDSMC1 |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Phenotype details |
see paper; ..., large fontanel; blue sclerae; telecanthus/hypertelorism; downâslanting palpebral fissures; no short palpebral fissures; no short nose with hypoplastic columella; long philtrum; thin upper lip vermilion; no palatal abnormalities; small mouth; microretrognathia; midfacial hypoplasia; ear deformities; no flexed/adducted thumbs; talipes equinovarus; joint hypermobility; muscular hypotonia; kyphoscoliosis; tapering fingers / toes; joint dislocations; no pectus deformity; congenital hip dislocation; hyperextensible skin; thin, fragile, transparent skin; easy bruising; large, subcutaneous haematoma; atrophic scarring; no delayed wound healing; fine palmar creases; no myopia; retinal detachment; no microcornea; no neurologic abnormalities; cardiovascular abnormalities; valvular abnormality; kidney abnormalities; hydronephrosis; bowel dysfunction; cryptorchidism; hernia; no hearing abnormalities |
| Hearing/Loss |
- |
| Protein |
- |
| CK-level |
- |
| EMG |
- |
| Muscle/Biopsy |
- |
| Age/Diagnosis |
- |
| Owner name |
Sofie Symoens |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2020-05-19 18:48:52 +02:00 (CEST) |
| Date last edited |
N/A |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
