tetra-amelia, autosomal recessive

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tetra-amelia, autosomal recessive

An extremely rare (first described in a highly consanguineous Arab family) autosomal recessive malformation disorder (OMIM:273395) characterised by complete absence of all four limbs, variably accompanied by craniofacial, nervous system, pulmonary, skeletal and urogenital defects.

Molecular pathology
Defects of WNT3, which plays a role in cell–cell signalling during morphogenesis, cause autosomal recessive tetra-amelia.