Achondroplasia (Dwarfism) Support Group
Achondroplasia is a type of genetic disorder that is a common cause of dwarfism. Only one copy of the gene needs to be present for the disorder to occur. People with achondroplasia have one normal copy of the fibroblast growth factor receptor 3 gene and one mutant copy. Discuss everything from relationships to lifestyle challenges.
Anyone with any experience with hypochondroplasia?
I suspect my 15 month old daughter may have this, but I can't find very much information online, and I can't find any online forums/support groups specific to hypochondroplasia.
Her height and weight have steadily declined from 50th %ile at birth down to 5th %ile now at 15 months old. Her head has held steady in the 60-70th %iles.
Prior to her birth, my OBGYN was very concerned about her limb measurements ... once we hit 20 weeks or so, her limbs were about 4-5 weeks behind the rest of her measurements ... the rest of her measurements were right on track for her gestational age ... except for her head, which was always 1-2 weeks ahead.
She doesn't APPEAR to be terribly disproportionate, but she does have wide feet with short toes. Her second toe is shorter than the third on both feet, but I don't know if that is related or not.
She has a single crease (Simian crease) on her left (dominant) hand, but not on her right. I don't know if this is specifically related to hypochondroplasia or not, but I've read it can result from low muscle tone which is common in achondroplasia and hypochondroplasia.
She has a flattened nasal bridge and mild frontal bossing.
I don't really have a question at the end of this novel ... I'm just looking for advice and more information. I haven't brought it up with her pedi yet, but I plan to at her next appointment later this week.
I suspect my 15 month old daughter may have this, but I can't find very much information online, and I can't find any online forums/support groups specific to hypochondroplasia.
Her height and weight have steadily declined from 50th %ile at birth down to 5th %ile now at 15 months old. Her head has held steady in the 60-70th %iles.
Prior to her birth, my OBGYN was very concerned about her limb measurements ... once we hit 20 weeks or so, her limbs were about 4-5 weeks behind the rest of her measurements ... the rest of her measurements were right on track for her gestational age ... except for her head, which was always 1-2 weeks ahead.
She doesn't APPEAR to be terribly disproportionate, but she does have wide feet with short toes. Her second toe is shorter than the third on both feet, but I don't know if that is related or not.
She has a single crease (Simian crease) on her left (dominant) hand, but not on her right. I don't know if this is specifically related to hypochondroplasia or not, but I've read it can result from low muscle tone which is common in achondroplasia and hypochondroplasia.
She has a flattened nasal bridge and mild frontal bossing.
I don't really have a question at the end of this novel ... I'm just looking for advice and more information. I haven't brought it up with her pedi yet, but I plan to at her next appointment later this week.
My son was diagnosed with Hyperchondroplasia at 2 years of age (he is now 24 years old). I'd recommend seeing your pedi about it, and if not satisfied there then get a second opinion. There are some do's and dont's with children with hypochondroplasia (for example, trampolines are a big NO as they often have a narrowing of the spinal cord leading to the brain and so we were told the motion of trampoline jumping and similar activities could cut of the circulation of blood to the brain! eeek!), apart from that the biggest hurdles to deal with are the bowing of the legs, a lot of visits as they get older to orthopedic specialists. We couldn't get much information either, and even the doctors didn't know much about it. We did attend a genetics clinic when my son was younger, but still they didn't seem to know much either! My son says the biggest problem from his point of view is the isolation from other "normals" as he got older, particularly teenage years to adulthood, when people can be quite cruel with their comments. But apart from that he says there's nothing anyone else can do that he cant (albeit with some assistance at times). But definately get it checked out hunny, and let us know how you get on. xx
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Best wishes to you and your daughter.
I have Acondroplasia and while I cant give you much advice on this topic I just want to say that there are a lot of us out there and she is going to grow up to have an amazing life. :)