Ehlers-Danlos syndrome, arthrochalasia type
An 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.
MONDO:0020066
Ehlers-Danlos syndrome
is_a
AEDS
related
EDS 7A
narrow
EDS 7B
narrow
EDS VII
exact
EDS7A (formerly)
related
EDSARTH1
related
Ehlers-Danlos syndrome type 7
exact
Ehlers-Danlos syndrome type 7A (formerly)
related
Ehlers-Danlos syndrome, arthrochalasia type
exact
Ehlers-Danlos syndrome, type VII
exact
arthrochalasia EDS
related
arthrochalasia Ehlers-Danlos syndrome
related
arthrochalasis multiplex congenita
related