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Ehlers-Danlos syndrome type VIIC, autosomal recessive
Genetics:
- associated with defects in ADAMTS2
Clinical manifestations:
- hyperextensible skin
- joint hyperlaxity
- extremely fragile tissues
- easy bruising
- facial skin contains numerous folds, as in the cutis laxa syndrome
General
Ehlers-Danlos syndrome type VII
Database Correlations
OMIM 225410
References
OMIM :accession 225410