A rare autosomal recessive skeletal dysplasia (OMIM:258315) characterised by severe congenital micromelia with shortening and distal tapering of the humeri and femora and a club-like appearance. Typical facies include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin.
Molecular pathology Defects in GPC6, which encodes glypican 6, a cell surface proteoglycan cause omodysplasia 1.
Molecular changes include: point mutations of GPC6 leading to protein truncation and larger genomic rearrangements resulting in exon deletions. All mutations in omodysplasia 1 can lead to absence of functional glypican 6.
Synonyms Autosomal recessive omodysplasia, micromelic dysplasia—congenital—with displocation of radius, omodysplasia—autosomal recessive, omodysplasia—generalised form