Phenotype #0000228728
| Individual ID |
00301628 |
| Associated disease |
EDS |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Initial |
musculocontractural EDS |
| Age/Examination |
6y (6 years) |
| Diagnosis/Definite |
EDSMC1 |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Phenotype details |
see paper; ..., large fontanel; blue sclerae; telecanthus/hypertelorism; down‐slanting palpebral fissures; short palpebral fissures; short nose with hypoplastic columella; no long philtrum; thin upper lip vermilion; palatal abnormalities; small mouth; microretrognathia; midfacial hypoplasia; ear deformities; multiple congenital contractures; flexed/adducted thumbs; talipes equinovarus; contractures fingers; hyperextensible skin; thin, fragile, transparent skin; easy bruising; no atrophic scarring; no delayed wound healing; fine palmar creases; no myopia; no retinal detachment; no microcornea; neurologic abnormalities; ventricular defect; hypoplasia septum pellucidum; Dandy‐Walker anomaly; no cardiovascular abnormalities; kidney abnormalities; hydronephrosis; bowel dysfunction; cryptorchidism; hernia; 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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