Phenotype #0000228730

Individual ID 00301630
Associated disease EDS
Inheritance Familial, autosomal recessive
Diagnosis/Initial musculocontractural EDS
Age/Examination 18y (18 years)
Diagnosis/Definite EDSMC1
Age/Onset -
Phenotype/Onset -
Phenotype details see paper; ..., blue sclerae; telecanthus/hypertelorism; down‐slanting palpebral fissures; short palpebral fissures; no short nose with hypoplastic columella; long philtrum; no thin upper lip vermilion; palatal abnormalities; small mouth; microretrognathia; midfacial hypoplasia; ear deformities; no flexed/adducted thumbs; talipes equinovarus; contractures fingers; joint hypermobility; kyphoscoliosis; tapering fingers / toes; joint dislocations; congenital hip dislocation; hyperextensible skin; large, subcutaneous haematoma; atrophic scarring; fine palmar creases; myopia; microcornea; cardiovascular abnormalities; atrial septum defect; cryptorchidism; 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 InternationalCreative Commons License
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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