Tetra-amelia syndrome, also called autosomal recessive tetraamelia, is an extremely rare congenital disorder defined by the absence of all four limbs. Other parts of the body are also malformed, including the face, skull, reproductive organs, anus, lungs and pelvis. The disorder is inherited in an autosomal recessive manner and can be caused by recessive mutations in the WNT3 or RSPO2 genes. The name joins the prefix tetra, meaning four, with amelia, the absence of a limb. The Wikipedia lead is brief, so this entry records only what that lead supports, leaving natural history and management to later research.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable Causative Agent
Causative Agent (category) Sources
1. MedlinePlus Genetics, National Library of Medicine: Tetra-amelia syndrome
MedlinePlus Genetics, National Library of MedicineDescription: limbsQuote, Description: limbs
Tetra-amelia syndrome (sometimes known as TETAMS) is a very rare disorder characterized by the absence of all four limbs.
2. Tetra-amelia syndrome (Wikipedia)
Lead, first paragraph
The disorder can be caused by recessive mutations in the WNT3 or RSPO2 genes.
Lead, first sentence
is an extremely rare autosomal recessive congenital disorder characterized by the absence of all four limbs
Lead: disease category
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.
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