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.

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