Phenotype #0000228727
| Individual ID |
00301627 |
| Associated disease |
EDS |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Initial |
musculocontractural EDS |
| Age/Examination |
36y (36 years) |
| Diagnosis/Definite |
EDSMC1 |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Phenotype details |
see paper; ..., blue sclerae; telecanthus/hypertelorism; downâslanting palpebral fissures; no short palpebral fissures; short nose with hypoplastic columella; no long philtrum; no thin upper lip vermilion; no palatal abnormalities; no small mouth; no microretrognathia; midfacial hypoplasia; ear deformities; no flexed/adducted thumbs; talipes equinovarus; contractures fingers; no joint hypermobility; muscular hypotonia; kyphoscoliosis; tapering fingers / toes; joint dislocations; no pectus deformity; hyperextensible skin; thin, fragile, transparent skin; easy bruising; large, subcutaneous haematoma; atrophic scarring; delayed wound healing; fine palmar creases; no myopia; no retinal detachment; microcornea; no cardiovascular abnormalities; no kidney abnormalities; bowel dysfunction; 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 |
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