Phenotype #0000129797

Individual ID 00164779
Associated disease EDS
Inheritance Familial, autosomal recessive
Diagnosis/Initial -
Age/Examination 33y (33 years)
Diagnosis/Definite -
Age/Onset -
Phenotype/Onset -
Phenotype details Joint hypermobility, Dislocations, Hyperextensible skin, Redundant skin, Poor wound healing, Atypical scarring of skin, Bruising susceptibility, Prominent superficial veins, Hernia, scoliosis, thoracic scoliosis, facet joint arthrosis, degenerative disc disease, severe osteopenia, mitral valve prolapse, aortic dilatation, carotid artery stenosis, structural foot deformity, Piezogenic pedal papules, sacral dimple, hypertriglyceridemia MRI: empty sella
Hearing/Loss normal
Protein -
CK-level -
EMG -
Muscle/Biopsy -
Age/Diagnosis -
Owner name Moritz Hebebrand
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Moritz Hebebrand
Date created 2018-06-12 15:33:19 +02:00 (CEST)
Date last edited 2018-06-21 12:59:54 +02:00 (CEST)

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