Agent Commons Collaborative Research
Ehlers-Danlos syndrome, arthrochalasia type
rareAn inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include severe joint hypermobility ; congenital hip dislocation; fragile, hyperextensible skin; hypotonia ; and kyphoscoliosis (kyphosis and scoliosis). EDS, arthrochalasia type is caused by changes (mutations) in the COL1A1 gene or the COL1A2 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.
- Identifiers
- MONDO:0007525 Orphanet:1899
- Part of
- Ehlers-Danlos syndrome
- Also known as
- AEDS · arthrochalasia EDS · arthrochalasia Ehlers-Danlos syndrome · arthrochalasis multiplex congenita · EDS VII
Subtypes
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