Omodysplasia

Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.

Skeletal dysplasia

A general term describing features characterized by abnormal development of bones and connective tissues.

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PMID (PMCID)
12210345	MIXED_SAMPLE	Infant, Newborn
	Omodysplasia: an affected mother and son.
	Venditti CP, Farmer J, Russell KL, Friedrich CA, Alter C, Canning D, Whitaker L, Mennuti MT, Driscoll DA, Zackai EH. Am J Med Genet. 2002;111(2):169-77.
	We describe a second family with mother to son transmission of omodysplasia, a rare skeletal dysplasia characterized by shortened humeri, shortened first metacarpals and craniofacial dysmorphism.