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Ehlers-Danlos syndrome type VIIA, autosomal dominant
Pathology:
- connective tissue disorder
Genetics:
- mutation in COL1A1 gene or COL1A2 gene
Clinical manifestations:
- hyperextensible skin
- trophic cutaneous scars due to tissue fragility
- joint hyperlaxity
- recurrent partial dislocation
- bilateral congenital hip dislocation
Specific
Ehlers-Danlos syndrome type VII, autosomal dominant/COL1A1 mutation associated
Ehlers-Danlos syndrome type VIIA, autosomal dominant/COL1A2 mutation associated
General
Ehlers-Danlos syndrome type VII
Database Correlations
OMIM correlations
MORBIDMAP correlations
References
- OMIM :accession 130060
- OMIM :accession 120150
- OMIM :accession 120160