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Ehlers-Danlos syndrome type I (severe form of classic Ehlers-Danlos)
Severe form.
Pathology:
- connective tissue disorder
Genetics:
- associated with defects in COL1A1 [2]
- associated with defects in COL5A1 & COL5A2
Clinical manifestations:
- hyperextensible skin
- atrophic cutaneous scars due to tissue fragility
- joint hyperlaxity
Database Correlations
OMIM correlations
MORBIDMAP 120215
References
- Harrison's Principles of Internal Medicine, 14th ed.
Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2189-91
- OMIM :accession 130000