Tetra-amelia syndrome (tetra- + amelia), also called autosomal recessive tetraamelia, is an extremely rare autosomal recessive 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. The disorder can be caused by recessive mutations in the WNT3 or RSPO2 genes. Presentation
Tetra-amelia syndrome is characterized by the complete absence of all four limbs. The syndrome causes severe malformations of various parts of the body, including the face and head, heart, nervous system, skeleton, and genitalia. In many cases, the lungs are underdeveloped, which makes breathing difficult or impossible. Because children with tetra-amelia syndrome have such serious medical problems, most are stillborn or die shortly after birth. Cause
RSPO2 and WNT3  genes
Researchers have found loss-of-function mutations in the WNT3 or the RSPO2 genes in people with tetra-amelia syndrome from several consanguineous families. These two gene encode proteins belonging to the WNT pathway which plays critical roles during development. The protein produced from the WNT3 and RSPO2 genes are involved in the formation of the limbs and other body systems during embryonic development. Mutations in the WNT3 or RSPO2 genes prevent cells from producing functional WNT3 and RSPO2 proteins, which disrupts normal limb formation and leads to the other serious birth defects associated with tetra-amelia syndrome. According to a 2018 study by Bruno Reversade, the loss of RSPO2, unlike WNT3, also prevents formation of the lungs causing a lethal syndrome of tetra-amelia.
MAC infection can cause COPD and lymphadenitis, and can cause disseminated disease, especially in people with immunodeficiency. : 245

History
In 2004, Tortoli et al. proposed the name M. chimaera for strains that a reverse hybridization–based line probe assay suggested belonged to MAIS (M. avium–M. intracellulare–M. scrofulaceum group), but were different from M. avium, M. intracellulare, or M. scrofulaceum. The new species name comes from the Chimera, a mythological being made up of parts of three different animals. References
External links
Mycobacterium avium Complex at the US National Library of Medicine Medical Subject Headings (MeSH)