tetra-amelia, autosomal recessive

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.