Tetra-amelia syndrome

Definition:

Tetra-amelia syndrome (TETAMS) is an extremely rare condition characterized by the complete absence of all four limbs. Patients commonly have other anomalies involving the face, eyes, heart, nervous system, and urogenital system. Homozygous Wnt3 mutation is responsible for tetra-amelia. Recently, it has been reported that RSPO2 mutations cause tetra-amelia syndrome with lung aplasia.

References:

[1]. Emmanuelle Szenker-Ravi, et al. RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6. Nature. 2018 May;557(7706):564-569. [Content Brief]

[2]. M M Al-Qattan, et al. WNT pathways and upper limb anomalies. J Hand Surg Eur Vol. 2011 Jan;36(1):9-22. [Content Brief]

[3]. Stephan Niemann, et al. Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family. Am J Hum Genet. 2004 Mar;74(3):558-63. [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.