Tetra-amelia syndrome

Tetra-amelia syndrome
Other namesAutosomal recessive tetraamelia
Violetta, a 1920s sideshow performer with tetra-amelia syndrome

Tetra-amelia syndrome (tetra- + amelia), also called autosomal recessive tetraamelia,[1] is an extremely rare autosomal recessive[2] congenital disorder characterized by the absence of all four limbs. Other areas of the body are also affected by malformations, such as the face, skull, reproductive organs, anus, lungs and pelvis.[1] The disorder can be caused by recessive mutations in the WNT3 or RSPO2 genes.[2][3]

  1. ^ a b Online Mendelian Inheritance in Man (OMIM): 273395
  2. ^ a b Niemann, S.; Zhao, C.; Pascu, F.; Stahl, U.; Aulepp, U.; Niswander, L.; Weber, J.; Muller, U. (Mar 2004). "Homozygous WNT3 Mutation Causes Tetra-Amelia in a Large Consanguineous Family". The American Journal of Human Genetics (Free full text). 74 (3): 558–563. doi:10.1086/382196. PMC 1182269. PMID 14872406.
  3. ^ Szenker-Ravi, Emmanuelle; Altunoglu, Umut; Leushacke, Marc; Bosso-Lefèvre, Célia; Khatoo, Muznah; Thi Tran, Hong; Naert, Thomas; Noelanders, Rivka; Hajamohideen, Amin; Beneteau, Claire; de Sousa, Sergio B. (May 2018). "RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6". Nature. 557 (7706): 564–569. Bibcode:2018Natur.557..564S. doi:10.1038/s41586-018-0118-y. ISSN 1476-4687. PMID 29769720. S2CID 256771137.