July 2011

Spondyloepimetaphyseal dysplasia is an inherited disorder of bone growth.

It can result in dwarfism, and some vision and hearing difficulties depending on the subtype.

People with this condition have short stature from birth, with a very short trunk and shortened limbs. Their hands and feet, however, are usually average-sized. Affected individuals may have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). This abnormal spinal curvature may be severe and can cause problems with breathing. Instability of the spinal bones (vertebrae) in the neck may increase the risk of spinal cord damage. Other skeletal features include flattened vertebrae (platyspondyly), severe protrusion of the breastbone (pectus carinatum), an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara), and an inward- and upward-turning foot (clubfoot). Arthritis may develop early in life.

Basically, it’s a type of Dwarfism… More info at the U.S. National Library of Medicine.

This is my nephew, Liam. He’s just been diagnosed with SMD. But not a particular subtype. He’s little. He’s cute. He’s Liam.

He of course, is doing his own thing.

He has a little sister due in two weeks. So my sister and her husband have their hands full, but being in Syndey means I’m closer to them and more able to help…

I was happy to see though that it’s on the list of rare diseases the Steve Waugh Foundation supports! Which means I’m running for the right cause come the City 2 Surf!!!

Tagged as: dwarfism, Liam, SMD, Spondyloepimetaphyseal dysplasia

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