chondrodysplasia—Grebe type

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chondrodysplasia—Grebe type2016-11-25T08:49:56+00:00

chondrodysplasia—Grebe type

GENETICS, ORTHOPAEDICS

An autosomal recessive disorder (OMIM:200700) characterised by severe joint and limb defects with limb shortening progressing in a proximal-distal gradient. The fingers and toes lack articulation and appear as skin appendages. The axial and craniofacial skeleton are not affected.

Synonyms Achondrogenesis—Brazilian, achondrogenesis—type II—formerly, acromesomelic dysplasia—Grebe type, Grebe chondrodysplasia, Grebe dysplasia 

References http://www.genecards.org/cgi-bin/carddisp.pl?gene=GDF5

http://www.omim.org/entry/200700 

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