Short long bones

Insa328 - posted on 06/05/2012

Hi thanks for sharing all your stories. We have 21 month old twins which are very short and have very large foreheads and just a different look to them. I am expecting dwarfism but my doctor won't give me an appointment until late November. He doesn't believe that my twins have the dwarfism because they were not born with large heads...I would say this issue came up at around 6 month.
Would you guys be able to tell me if your children with dwarfism had large heads right from the start and if that is always the case. Still trying to figure out what is wrong or if something is wrong and I can't seem to find somebody for answers.
Thanks so much for you help!

Amber - posted on 08/18/2011

Hi everyone,
Im a proud mother of a beautiful little girl, who will be 3 in nov. we found out that she had hypochondroplasia when she was 1 1/2 yrs old, we knew from birth that she was different, and the quest started from there, well lets just say it was "hell". It first started when we went to first yr check-ups, her dr kept saying that she was falling off the growth charts, and she was calling it "Failure to Thive" and also that we need to get some testing. it started with "Turner Syndrome" very common in girls. That came back negitive. Then it was off to see the Gastroenterology. They basically told us that there was no reason for her to be here. Then it was off to see the Geneticist the first time. They reviewed the xrays and felt that there was an abnormality, and will do further workup. i received a letter stating that we didnt have to come back, because lab work didnt show anything. It wasnt till she was about 15 months that i was getting concern with her height. It was also at this time period that she showed signs of delayed speech and some gross motor skills. At this point the pediatric dr. stress to the Genetics dr's and the Endocrinology dr's the need to evaluate for short stature asap. Then to "babies can't wait", people who work with speech delays, for evaluate for development disorder asap. The Endocrinology did blood test for growth hormone deficiency, which came back negitive. The babies cant wait did their testing and found nothing at the time that was serious, it wasnt till 4-5 mouths later that i had them retest her that they found signs of her being more delayed then before. So we started seeing someone about her speech, today, 8 months later, she is still in the program and has blossom with her speech! As for the endocrinology they did lots of blood work and taking xrays, looking for vitamin D and calcuim levels, which by the way came back normal.Then they wanted to take xrays of her wrists for some reason. and that came back normal again. To us it started to feel that they were making her a lab rat by doing all these test and finding nothing. so thats when they express their opinions about growth hormones several times! We have basically told them to shove it. Because we feel that she is small for a reason, there is no reason to try to change what god has blessed us with. So back to the Genetics, so we went back to see a different dr., the one we had before had left. good thing didnt like him any ways. This new dr. was really into wanting to know as much as she can about our daughter, and what she has been though. She had ordered her to have a very intensive amount of xrays down, about 15-25 of them. So we thought they had to find something on this so we went. it was so painful to watch a little go though something like that. about a month later they called us in to talk about their findings. Let me tell you, we were so excited that they had found the reason to her shortness! When they told us that is was "hypochondroplasia", we were actually blowen away. All they said really was she's going to be short, have some learning disabilites, and we are going to have to make some modification around the house and when she goes to school. Since then everything has been great. Well couple days ago went to the orthop. for our yearly check up, and they wanted to take xrays of her neck, since i wasnt expecting them to do xrays i asked why, "oh we want to check stability in her C1 and C2 vertebrae" ok no problem. So they come in ask questions like "has she ever fallen and cant get up?" "NO" i said. Now shes almost fully potty trained. then they asked "ok has she ever reverse in training, like gotten worst and never went back?" again "no". So they went on to telling me that she's baisally going to have to have surgury in the back of her neck on her spin because she has to much instability in her C1 and C2 vertebraes. All i can say is im a ball of nerves and tears. My question to you parents is Has a dr. ever mentioning this to you?
Today at being almost 3, in 3 months, and starting preschool next week, she is so full of energy and excitment. She's my world! Any infomation would greatly appreciated. And if anyone has any questions for me, i will answer them to the best of my ability.

Amy - posted on 04/03/2010

I think the reson we were late in relaying our concerns to doctors is because my son has the same body structure as his father. They both have a very long trunk and short legs with wide hand and short fingers. Therefore throughout my pregnancy, when my son's head measured larger than normal, they just said, "well, he is like his dad." As he got older, like 3-4 years old, he was still wearing 12 month shorts and pants and when next to other kids his age, he was quite a bit shorter. So at his four year checkup, I started talking to the doctor and said, "so do you think he is kind of short?" The doctor then took a closer look and brought in another doctor to look at my son. They both agreed that he had characteristics of dwarfism (large head, small upper body extremeties, bowed legs, thick wide hands with short fingers) That afternoon they ordered a complete body x-ray of this bones. The doctor called the next day saying that the end of my son's bones were more square than round, and based upon everything they saw, he thought he had a form of dwarfism. Yet, he said that we should see a genectist and got us an appointment the next week. When we saw her the next week, she immediately said hypochondroplasia for my son based upon his facial features and measurements and bone scan. She ordered the lab to draw his blood and it was sent off to be tested to confirm. There is a 70% chance that the results would come back positive and a 30% chance that my son's mutation is not detectable. We were in the 70% and got the confirmation that his gene mutation was in fact hypochondroplasia. It helps to explain a lot about how his body grows and things to watch for or areas of concern. He had an x-ray to check his neck since there is a concern due to his head being so large for his body. (His head is the size of an 18 year old, so that mass and weight can put extra strain on the neck) He is a very healthy young boy with high muscle tone and actually from his 4th to 5th birthday he grew 3 inches. We are still way below the height curve for his age and we see the genectist yearly so she can monitor his growth. We also see an orthopedic surgeon to monitor his bones and an eye doctor since persons with dwarfism tend to have a higher rate of glucoma. Now at 6.5 years old, we are just getting into 4T pants, although sometimes they are kinda long. I also got lots of great information from Little People of America and other websites about dwarfism.

Becky - posted on 04/02/2010

Hi Amy,
I haven't been on this site for such a long time. Things are still on going with my son, he had complete skeletal x-rays taken in January and will be having more blood work taken to test again soon. The test for Aarskog syndrome came back negative. I am not finding the Doctors very helpful in that until something definate is confirmed they don't want to commit to anything and brush aside questions. I have desperately been trying to find someone with a child with any type of Dwarfism that was diagnosed at a later age. My son doesn't have the typical large head or facial features of someone with Dwarfism and people say they can't see anything wrong with his arms and legs. This just frustrates me as it is a fact that his long bones are short. I feel that everyone thinks I'm mad but I have a strong feeling he has Dwarfism. At what age did you start having a gut feeling? Lots of people have said to me that you often can't tell until they're 2yrs. What happens at 2yrs? Do their limbs rapidly slow down in growth so that the Dwarfism becomes more obvious? When I was pregnant the Doctors were more concerned about his legs as they were 6 weeks behind in growth but since being born they are more concerned about his arms. Anything you can tell me or don't mind sharing with me would be very much appreciated. I will check more regularly in the hope of hearing from you. Best Wishes to you and your family.

Amy - posted on 10/22/2009

Thanks Becky for the book referral. My six year old son has hypochondroplasia, and loves cars and everything racing. He was not diagnosed until he was four at a yearly check-up and I voiced concerns about how small he was. He met all milestones on target, yet was just small..more so in this upper legs and arms. After x-rays, blood work-up, and genetics visits we got the confirmation of hypochondroplasia. He loves to watch Little People, Big World and we encourage him to participate in all things that other kids his age and school do. But I will definitely check out that book! THX!

Heather - posted on 10/07/2009

Hi there, I have a 12yr old dwarf boy with Achondroplasia the most common form of short stature, there are over 100 different kinds, anyway, have you got a diagnosis yet, if I can help I'm online now, just found this site, all the best.

Becky - posted on 08/13/2009

Hi Angela,

Thanks for your response. My pregnancy and the problems that arose after Phoenix was born ( and all the subsequent hospital visits and many many tests) had really worn me down. Now Phoenix is 6 months old he has his own personality so it is much easier to see him for the perfect little boy he is and not just the million possible hurdles he could have to overcome. Tests have recently been sent to Italy to test him for a rare condition called Aarskog syndrome. The test results will take 3 months. People with Aarskog are of small stature. I am not convinced he has it, as although he has some of the symptoms he doesn't have the main, distinct facial ones. He is doing all his milestones and thriving, so hopefully if there are any problems ahead, they may just be mild. His episodes of benign torticollis are getting milder and further apart. Any way Thanks for all the advice. There is a book you might be interested in called Fast Lady, my life in motorsport by Joy Rainey. It is about a lady with restricted growth who takes part in all sorts of car races. I thought it might help you and your son realise he really can do any-thing he wants. Best wishes , Becky. xx

Angela - posted on 08/11/2009

Sorry Becky it has taken me so long to respond, we've been in and out of the doctors offices and time has simply passed me by. I wish I could answer all your questions, however I dont think I myself will ever have all my own questions answered ..... I can however share with you what we have & are going thru, things that I have noticed & things that I have observed along my 9 year journey with my son and his illness. My son did not have the typical "signs" of dwarfism his body & shape are in proportion, his limbs are also in proportion with his body, however as he ages his body is the size of the "average" 6 year old. He is starting to show more sings of his illness here in the past few months, he is starting to have stiffness in his arms & legs - which I was told is "normal" with his condition. It took me 6 years to get a specific label on what was going on with my son ... and since that day I can honestly say I've had many more questions and many different opinions as to my sons future and treatment. We just had an MRI done again Monday, to check my sons bone density in addition to other things and we have an appointment with the endocrinologist Thursday to see if growth hormone therapy is an option to try again. When my son was originally given his condition we attempted growth hormone injections for a specific period of time to see what if any results he would have and unfortunally he wasnt showing any signs of the treatment working so the endocrinologist and I choose to stop the daily injections and wait till he was older to look into the treatment plan again. Wow I have totally just rambled on .... but I guess my general point in all my rambling is that this is something you will learn new things about all the time if not daily. My only advice that I dont think I can share enough is love your child for who they are and just becase a Dr. gives your child a "condition" dont let it hinder you from rasing your child ....... my son is not aware that he has anything wrong with him I've never allowed myself to allow his condtion to hinder him in ways that is dosent naturally. My son is short so he has his stool he uses to get objects that are out of his reach but that is his only means of assistance other then myself. My son has played in contact sports (even with low bone density & without our Dr's blessings), goes fishing, camping, swimming, rides bikes & ATV's. He currently wants to be a race car driver when he grows up and I encourage him to do so - even though I know in my heart it will be a HUGE challange for him to do I would never let him know it .... if that makes any sense.

Becky - posted on 06/12/2009

Hi Angela,

I guess I was hoping there was some way of knowing if my son HAS got Dwarfism or not, without having to wait for his genetic bloods, i.e any other tell tale signs. He doesn't have the characteristic face/head shape but I know this isn't always a sign. I wondered if there were any mums out there whose children also had short long bones, but that was all it was, short limbs, not connected to any thing else. I think I'm not coping very well at the moment with all that's gone on since my 20wk scan. It's finally caught up with me and I just want a difinative diagnosis so that I can except things and move positively forward. It's hard when you're stuck in limbo not knowing what you're dealing with or what to expect next. For instance when he started having his episodes of torticollis ( head tilting/stuck to one side, vomiting, eyes rolling ,trance like state), I didn't know if he was ill, it was part of a syndrome he may have or something completely new and seperate. I know there can be problems with the spine and top of the neck in one type of Dwarfism, so initially thought this might be why his head was tilting. He is seeing lots of different specialists and has had many different tests so I suppose I should just be patient and wait. It's just that he is now 19wks old and I'm still waiting. Sorry if I am posting this on the wrong site but you were the closest to what I was looking for. Many Thanks for any of your thoughts on this matter.

Angela - posted on 06/11/2009

Hi Becky - Im happy you found my site. First and formost know that you are not alone!



My son has Hypocondroplasia which is a syndrome of dwarfism - which I think in some form links to all types of genetice problems .... what questions do you have exactly?