So what is Spondyloepimetaphyseal dysplasia? - the little lioness

So what is Spondyloepimetaphyseal dysplasia?

Liam

Spondyloepimetaphyseal dysplasia is an inherited disorder of bone growth.

Liam

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

Liam

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.

Liam

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

Liam

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.

Liam

He of course, is doing his own thing.

Liam

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…

Liam

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!!!

Liam

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18 comments for “So what is Spondyloepimetaphyseal dysplasia?

  1. July 29, 2011 at 3:09 pm

    Awww! What a cutie! :)

    • July 29, 2011 at 3:17 pm

      he’s related to me ;)

  2. July 29, 2011 at 3:43 pm

    One in a million

  3. July 29, 2011 at 4:49 pm

    So cute. Love the big cheesy smile!

    • July 29, 2011 at 8:16 pm

      The second there’s a camera on him! even if he’s crying!

  4. July 30, 2011 at 3:09 pm

    He is just beautiful – just the way he is! Really gorgeous post. And all the best with the City 2 Surf! xx

    • July 30, 2011 at 10:37 pm

      Thanks hun xxx

  5. Kelkel
    August 1, 2011 at 11:32 am

    Cutie.

    Is this an inherited disorder? Does it mean anything for the second baby or for any that you may have?

    • August 1, 2011 at 7:12 pm

      From what I understand, his is a “new mutation” meaning he didn’t get it from either parent, but it mutated in him. So probably is okay for others.

      • Jen
        August 2, 2011 at 8:40 am

        From what they have told us, it shouldn’t affect little sister or any kids of Fiona’s. But they did tell us to get her looked at as soon as possible just in case (all ultrasounds have been normal, but as far as they told me, so were Liam’s..), and then if there is anything we can get onto physio and all that straight away.
        So right now we’ve just got to count down the days until bubba is out and then find out. It’s a bit trying at times.

        • August 2, 2011 at 9:17 pm

          Thanks Jen :) See you this weekend x

  6. Kelkel
    August 2, 2011 at 9:49 am

    *nods* thanks for the education. :)

    • August 2, 2011 at 9:16 pm

      we shall all learn together :)

  7. August 5, 2011 at 7:42 pm

    Just catching up. He is of course, absolutely gorgeous. And funnily enough, broken genes don’t change how amazing a kid is.

    Hope your family is holding up okay. xxx

    • August 7, 2011 at 4:50 pm

      Thanks V, Jen mentioned your comment to me at breakfast today and loved it :)

  8. Blanca Anguiano
    April 6, 2013 at 9:51 am

    Hi your nephew is such a cutie;).. After three long years my daughter Allyson has been diagnosed with the same dysplasia without a subtype . She turned 3 yrs this past March, how old is your nephew?

    • April 6, 2013 at 1:16 pm

      Liam turned 3 in September, so about 6 months older than Allyson. I hope you are finding the support you guys need

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