Ehlers-Danlos syndrome arthrochalasia type

Definition:

Ehlers-Danlos syndrome arthrochalasia type (EDSARTH) is a rare autosomal dominant disorder that is characterized by severe generalized joint hypermobility, with recurrent joint subluxations and luxations. Congenital bilateral hip dislocation at birth and muscular hypotonia are common.

References:

[1]. Cecilia Giunta, et al. The arthrochalasia type of Ehlers-Danlos syndrome (EDS VIIA and VIIB): the diagnostic value of collagen fibril ultrastructure. Am J Med Genet A. 2008 May 15;146A(10):1341-6. [Content Brief]

[2]. D Weil, et al. A base substitution in the exon of a collagen gene causes alternative splicing and generates a structurally abnormal polypeptide in a patient with Ehlers-Danlos syndrome type VII. EMBO J. 1989 Jun;8(6):1705-10. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.