tetraamelia—autosomal recessive

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tetraamelia—autosomal recessive2016-11-28T07:02:30+00:00

tetraamelia syndrome—autosomal recessive 

GENETICS

An über rare–first described in a highly consanguineous Arab family–autosomal recessive malformation disorder (OMIM:273395) which is characterised by 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 signaling during morphogenesis, cause autosomal recessive tetra-amelia. 

Synonyms Autosomal recessive tetraamelia, Zimmer phocomelia

References http://www.uniprot.org/uniprot/P56703

http://www.omim.org/entry/273395

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