Ehlers-Danlos syndrome- type VII- autosomal dominant
Overview
Type VI EDS (the ocular-scoliotic form of EDS) is characterized by a fragile globe of the eyes, significant skin and joint laxity, and severe curvature of the spine (scoliosis). It is inherited as an autosomal (non-sex-linked) recessive genetic trait. Recessive means that two copies of the gene are required to produce the disease.
Symptoms
The typical clinical features associated with this syndrome include bilateral congenital dislocation of the hip; severe generalized hypermobility of the joints; multiple dislocations of joints other than the hip; muscular hypotonia; and hyperelasticity, fragility, and a doughy texture of the skin.
Causes
Collagen and DNA analyses demonstrated that both of our patients had type-VIIB Ehlers-Danlos syndrome, which is caused by heterozygous new mutations of the COL1A2 gene that encodes the proalpha2(I) chain of type-I procollagen.