Spondyloepimetaphyseal dysplasia Archives ~ the little lioness

Tag: Spondyloepimetaphyseal dysplasia

Kicking and Screaming

I went down to Westmead Children’s Hospital today for Liam’s annual review. A long day all around, with bribes of chocolate and Kinder Surprise eggs only taking so much edge off the tears and the kicks when we made him undress for assessment, or held him down for the x-rays. Because that’s what you do…

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One of those posts with photos of my nephew

Because instead of doing anything productive today, I spent much of it vomiting and dashing to the loo. But look! Cute kid photos from visiting the family on Thursday. He spent the day with this World Rare Diseases Day sticker on his head. Being special. While his six month old sister has learned to crawl,…

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World Rare Diseases Day 2012

Today, the rare day of Feb 29, is World Rare Diseases day. What IS a rare disease??? A rare disease in Australia is defined as one which affects 1 in 10,000 people or less. There are up to 8000 known rare diseases, the majority have a genetic origin. Although each disease is rare, collectively they…

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So what is Spondyloepimetaphyseal dysplasia?

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…

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