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Skeletal Dysplasia

(2 Posts)
macnab Sat 13-Dec-14 10:01:41

Our nephew has been diagnosed with this (he's only 5 months) and it appears to be genetic on my husband's side.

I'm a little concerned about how this might affect our own children. They are 4 & 6 and not showing any signs of abnomality whatsoever (DS has a larger than average head but nothing else) but could they still have the gene? (and therefore pass it on to their children?) or is it a case that you only have the gene if you display any of the traits? My DH is 5'10" but has a large head and shortish legs (29" inside). He has a long torso though and his arms are in proportion so I'm thinking he is very very mildly affected and therefore must have the gene.

We are all shocked and upset for the family who of course are our main priority/concern so.I dont want to sound selfish by asking questions about how it could affect my own immediate family. Anything I've found online is quite technical/medical in language and I cant really find the answers.

If anyone has experience of this I'd be so grateful for info/advice. Thanks

Micah Sat 13-Dec-14 10:07:52

See your gp and ask for a referral to a genetic counsellor smile

They can look at your family history, how the gene is inherited, and fill you in on any risk to existing or future children or grandchildren. Or if there's any tests available.

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