Genomic coordinate 9:134,641,803
Here I present: “Ehlers-Danlos Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 埃勒斯-丹洛斯綜合徵。 icd10=Q79.6
INTRODUCTION.
Ehlers-Danlos syndrome is a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are loose-jointedness and fragile, bruisable skin that heals with peculiar ‘cigarette-paper’ scars.
Ehlers-Danlos syndrome type-1 is characterized by marked skin involvement and generalized, gross joint laxity, with musculoskeletal deformity and diverse orthopedic complications. Internal complications such as aortic & bowel rupture are occasionally present.
There is evidence that Ehlers-Danlos syndrome type-1 is caused by heterozygous mutation in the collagen-5 alpha-1 gene (COL5A1) on cytogenetic location 9q34.3 and genomic coordinate 9:134,641,803.
