/axial spondylometaphyseal dysplasia

axial spondylometaphyseal dysplasia

Rare Disease

MONDO:0011211

Also Known As

SMDAXSmD axialSmD, axialaxial SmDspondylometaphyseal dysplasia axial typespondylometaphyseal dysplasia, axial

Definition

Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion.