Acheiropodia

Definition:

Acheiropodia is an extremely rare, severe congenital malformation caused by LMBR1 deletion. Patients show malformed upper and lower extremities with amputation of distal limbs and aplasia of hands and feet. It is inherited as an autosomal recessive trait.

References:

[1]. A Freire-Maia, et al. Historical note: the extraordinary handless and footless families of Brazil - 50 years of acheiropodia. Am J Med Genet. 1981;9(1):31-41. [Content Brief]

[2]. F A Marçallo, et al. Genetics of acheiropodia ("the handless and footless families of Brazil"): XI. Pathologic aspects. Am J Med Genet. 1979;4(3):287-91. [Content Brief]

[3]. P Ianakiev, et al. Acheiropodia is caused by a genomic deletion in C7orf2, the human orthologue of the Lmbr1 gene. Am J Hum Genet. 2001 Jan;68(1):38-45. [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.