Sunday, April 10, 2011

Thanatophoric Dysplasia

Information below from the Genetic Home Reference Website with added notes from me!

What is thanatophoric dysplasia?

Thanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the arms and legs. Other features of this condition include a narrow chest, short ribs, underdeveloped lungs, and an enlarged head with a large forehead and prominent, wide-spaced eyes.
Researchers have described two major forms of thanatophoric dysplasia, type I and type II. Type I thanatophoric dysplasia is distinguished by the presence of curved thigh bones and flattened bones of the spine (platyspondyly). Type II thanatophoric dysplasia is characterized by straight thigh bones and a moderate to severe skull abnormality called a cloverleaf skull.
The term thanatophoric is Greek for "death bearing." Infants with thanatophoric dysplasia are usually stillborn or die shortly after birth from respiratory failure; however, a few affected individuals have survived into childhood with extensive medical help.

Jamie Lynn was diagnosed with Type I.  At birth, she presented with a very small chest, tiny arms and legs but with large folds of skin.  Her facial features were consistent with most other dwarfisms.  Large forehead and tiny nose.  Her diagnosis was confirmed by X-rays at birth.  She died an hour and fifteen minutes after she was delivered via c-section.  We opted to not do extraordinary measures so that her time with us was peaceful.  It seems that most of the ladies online have an average of 1-2 hours post birth, but I do know of one baby boy that lived for 75 hours.  As of 2010, there have been only 4 individuals that have survived into childhood.

How common is thanatophoric dysplasia?

This condition occurs in 1 in 20,000 to 50,000 newborns. Type I thanatophoric dysplasia is more common than type II.

Every few months we have a new member on our online support group that either is diagnosed with some sort of dwarfism, usually a fatal form.  In my online world, I have only "met" one mom with Type II since 2009, but several with Type I. 

What genes are related to thanatophoric dysplasia?

Mutations in the FGFR3 gene cause thanatophoric dysplasia.
Both types of thanatophoric dysplasia result from mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Mutations in this gene cause the FGFR3 protein to be overly active, which leads to the severe disturbances in bone growth that are characteristic of thanatophoric dysplasia. It is not known how FGFR3 mutations cause the brain and skin abnormalities associated with this disorder.
Read more about the FGFR3 gene.

The FGFR3 gene drove me mad during my  pregnancy.  After much investigation, there are actually four dwarfisms linked to FGFR3.  Three which are fatal, and the other one?  Normal dwarfism, known as Achondroplasia.  It appeared that it was all about which Amino acid receptor mutated.  It was so frustrating to know that Jamie could have very well lived if the gene had just been a "tad" different!

How do people inherit thanatophoric dysplasia?

Thanatophoric dysplasia is considered an autosomal dominant disorder because one mutated copy of the FGFR3 gene in each cell is sufficient to cause the condition. Virtually all cases of thanatophoric dysplasia are caused by new mutations in the FGFR3 gene and occur in people with no history of the disorder in their family. No affected individuals are known to have had children; therefore, the disorder has not been passed to the next generation.

Basically, when our babies are conceived, a new mutation occurs.  The experts feel that it is one of those conditions that goes under the heading "Lightning Strikes".  They feel that lightening strikes are so rare and having two strikes is almost unheard of.  This is why we decided to go ahead and try to have another child after Jamie.

 Is it completely impossible to have another baby with TD?  No.  There have been case studies of a woman who had three consecutive TD births.  However, most women I "meet" online with same diagnosis go on to have healthy children.  Does that exclude other possible chromosomal issues?  No!  I won't lie when I say this isn't easy!


Where can I find information about diagnosis, management, or treatment of thanatophoric dysplasia?

These resources address the diagnosis or management of thanatophoric dysplasia and may include treatment providers.
You might also find information on the diagnosis or management of thanatophoric dysplasia in Educational resources and Patient support.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

I would copy all the information linked above, but it is gargantuan!  Our story?  

 Jamie was diagnosed at her 18wk Anatomy Scan (ultrasound).  The radiologist ONLY found shortened limbs of ALL long bones (meaning legs and arms).  He did not note any other irregularities.  He had us consult with our OB for options.  The first diagnosis we were given were actually chromosomal issues.  They included T21 (Down Syndrome), T13, and T18 (both which are pretty fatal).  Our OB suggested that we have an amniocentesis.  Termination of the pregnancy was offered at this point.  We stated that was not an option for us.  And for those who wonder, we are Catholic, but it our religion really didn't play into this fact. 

 My L&D background did.  

We had an amniocentesis done two days later.  We received our phone call from the OB on a Sunday.  Good news?  Yes, the baby's chromosomes were normal, which indicated no T21,T13,T18.   The bad news?  Something was still wrong with her.   

We were directed to our perinatologist.  At our appointment, he scanned our baby and immediately said that he felt that the baby had a fatal dwarfism.  Either OI (Brittle Bone Disease) or TD.  This is where I am going to be honest.  He made this decision pretty quickly and immediately offered termination.  After we expressed our feelings about termination and that we would carry NO matter what, even if the condition was fatal, he finally took more time.  All of a sudden, he felt that he baby (we did not want to know her gender...we like surprises!) might possibly have achondroplasia ("normal" dwarfism).  I only mention this because the medical community seems to be real quick to offer termination. 
 What you don't know?  MOST women opt for termination because they don't know that they CAN continue their pregnancy. 

Off to the Children's Hospital we went.  They did another extensive ultrasound and a Fetal MRI.  We received the results a few weeks later (she was approximately 24wks)  that indicated that Jamie had Thanatophoric Dysplasia with a differential diagnosis of achondroplasia.  

Hindsight?  All we needed was to make sure that the amnio included a genetic mutation screening for dwarfism.  It would have made things so much easier!  That little bit of hope that she had normal dwarfism hung at the back of our heads.  AND there was a possibility that she had a new form of dwarfism.  There are over 200 types of dwarfisms and new ones are diagnosed constantly.

  The remainder of our pregnancy consisted of numerous ultrasounds to track her growth, my amniotic fluid levels, and her general health.  She was a trooper and would surprise them with her activity inside.  She made fetal breath movements, which indicated that she was trying to breathe.  Her brain always looked healthy and normal, and her heart was strong.  When we reached 28wks, my amniotic fluid levels started to increase.  By 32 wks, we had reached epic proportions!  A normal AFI is about 8-18.  By the end of the pregnancy, we reached 54!   I looked like I was carrying twins, and it started to considerably compromise my breathing (history of asthma) and started taking a toll.  It also indicated that Jamie was expelling too much fluid and not "breathing" which would level the fluid out.  This and the fact that the ventricles started swelling were the catalyst to decide to deliver just shy of 36wks.  Any longer, and she would have been stillborn.


We had none.  You cannot "fix" the fact that every single cell of her body had this disease.  The reality is that her trunk and head were growing at normal or above normal rates, and her limbs were lagging behind.  By 35+wks, her head was measuring at 41wks and her limbs were still behind 17wks.  Yes, you read that right.  Her limbs never even measured the length that they should have been at her anatomy scan.  It was devastating.

We had to deliver via c-section due to the fact that she was breech presentation, which seems to be a common theme amongst the moms that I have communicated with.  The fear of a vaginal delivery is that they are likely to have entrapment problems.  Their bodies' would be delivered without difficulty, but their heads could get caught in the pelvic area and cause severe damage.

This actually worked well for us, because we had read that vaginal deliveries can compromise normal dwarfism babies also.  Their tracheas' are so short and can be easily closed off by their larger than normal heads.  We figure this gave us the time with her that we wanted.

 So this brings me to her birth!  We first found out we had a girl.

 We actually had to ask because the L&D staff are so used to parents knowing already!  Our OB wrote in bright red...DO NOT TELL GENDER on our chart.  He even tucked the amniocentesis results in the way back of the chart!  We also
 finally could actually confirm her TD (remember that differential diagnosis of achondroplasia?) by X-ray.  

Her x-ray showed that her lungs were just too small to sustain life.  It was painful, but liberating in so many ways.  We did not have to do superhuman treatments to just prolong a short life.  We wanted to hold her and love her, not watch her in a isolette and not be able to touch her.  She was with us for 75 min.  The most beautiful and painful minutes of my life.

We miss her dearly.

Where can I find additional information about thanatophoric dysplasia?

You may find the following resources about thanatophoric dysplasia helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for thanatophoric dysplasia?

  • Dwarf, thanatophoric
  • thanatophoric dwarfism
  • thanatophoric short stature
For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about thanatophoric dysplasia?

Ask the Genetic and Rare Diseases Information Center.

Pass me a note or email me at

I would love to "chat" with you! Just leave me a note in the comments section!

Where can I find general information about genetic conditions?

What glossary definitions help with understanding thanatophoric dysplasia?

autosomal ; autosomal dominant ; cell ; dwarf ; dwarfism ; dysplasia ; gene ; mutation ; new mutation ; protein ; respiratory ; short stature ; stature ; tissue
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (3 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.


Jen said...

Wonderful post full of great information!

cheryllookingforward said...

I never knew your full story, Heidi. You really are an amazing mom. Lots of love.

Anonymous said...

Thank you for writing this. Our baby is due 2nd June and has Type 1. We're in the process at the moment of trying to figure out the best birth plan, and have been frustrated by the care at the hospital in the last week just because they've been so rushed. We had thought that 'normal' birth was the best option, but as baby gets bigger I'm increasingly cautious. It helps to know that actually there is some wisdom in bringing him on early. We're in again on Tuesday, and what you've written has given us a much better idea of the questions we need to ask. The trouble is, the staff here had not heard of the condition, (except for 1 consultant), and the opinion in some quarters seems to be that if he's going to die anyway, it doesn't matter what happens. Needless to say, IT MATTERS TO US! We would so love to have even a few precious, if painful moments with him. Things are further complicated for me because my other 3 children were all born early, and the last one was a 30 minute labour. I would really like to be in control of this one so that he can have the best care afterwards - not to use extraordinary measure, but to make him as comfortable as possible for as long as possible.

Anyway - again, thank you for writing. It's given me the confidence, which I'd lost for a bit, about the questions and descision we need to be making.

And yes, the whole experience is such a heady mixture of love and pain - never knew I was capable of so much of both, especially at the same time! Jax

Heidi said...

I hate that there a "newcomers" everyday to this crazy condition, but glad you found this helpful. Hoping this really does help you with your appointment. Feel free to email me ( you need more information. I constantly add to the post b/c I remember something to add!

Anonymous said...

It really did help with our appointment - thank you again! We went back and spent 2 hours bashing out the options with an excellent midwife, over coffee on our own, and with a doctor too. Baby will come on Monday (as long as there's a bed free at the hospital), and will be induced. (If I don't manage to get him born before then - I'm trying EVERYTHING from a 5k run, to raspberry leaf to, you know, the other!).

We are SO looking forward to meeting him now.:-) Can't wait...

Anonymous said...

Oh and thank you for the photo too - he looks totally adoreable!

Anonymous said...

How dumb am I? - I mean 'she'! Sorry!

Heidi said...

I am so glad to hear you saying that you can't wait. That is exactly how I felt. Couldn't wait to meet her even though we knew it was going to be sad. By celebrating her with our family, we gained so much more! Will be thinking of you!!!!

Christy said...

I had a daughter named Lily Grace, who had TD1. She was born on June 3rd, 2004, and only lived 51 minutes. Now, I am wondering if taking anti-depressants could have caused, or effected it this, given all that is being said about them. If anyone else took them (or didn;t), and had a TD baby, please email me at

Heidi said...

Christy: My understanding after MUCH research is that TD is a genetic mutation at the moment of conception. Kind of like a quirk...with a devastating effect. I did take antidepressants AFTER she was born, but not before. And I was on them when we conceived our last child. He is quite healthy (knock on wood!)

Belinda said...

Hi Heidi, I have just been diagnosed with TD1, my husband and I have without question decided to go ahead and carry full-term, after reading about you and others we don't feel alone and also can't wait to meet our little boy, he is the first boy on both sides of the family and we can't wait to see his little face even if it is only for a short time, thank you for sharing your story, you give us hope thanks Belinda

Heidi said...

So glad to help. I am still working on adding posts from when I was carrying. I didn't have this blog then, so I try to backlog from a journal I wrote at the time! Enjoy your little boy while he is "here"!

Jax said...

Oliver Daniel was born at 3.20 pm on Monday 9th May 2011, and died in his daddy's arms shortly afterwards. He was so so beautiful. We miss him terribly. The hospital team were amazing, and let us spend the night with him - which seemed strange at first but we're so glad we did as we were able to share precious time with him, bathing him, dressing, combing his hair. Then we finally let him go at 10.52 the next day. Again, he was so beautiful.

Jax said...

Christie: I agree with Heidi - everything that we've learned from reading, research, and talking to the genetisist etc confirms that this condition is a random, sporadic mutation which occurs at conception, and any medication has no bearing whatsoever. You can't 'give' or 'cause' this condition, you can't even 'pass it down'. So be re-assured - it helped us to know it was a random but entirely natural event, and makes our babies extra special.

Heidi said...

@Jax: It sounds like you had a beautiful time with Oliver! May you and yours be gentle to yourselves and much peace and love in the coming days, weeks, months, and years.....

Anonymous said...

I am on my way to the doctor tomorrow to see if I am dialated. My baby has been diagnosed with TD1. I am a GOD fearing woman who has a great support team. I truly believe this child will live as long and as peaceful as let by GOD. I am so thankful for all fo your stories. I have so much to say and ask but I am getting a little emotional right now. My email is please feel fre at anytime to reachout. Day or night! GOD BLESS

Jax said...

@seholloway: How did it go? FYI When Oliver died in his daddy's arms, we knew that he was going from the arms of one father to another, just as it should be. Doesn't take away the pain, but God said he would be in it with us, and he has been and is.

Heidi: thanks for this site, and for your support, and for your kind kind words. Peace and love to you too...

Heidi said...

Thinking of all of you!!!!!

Anonymous said...


Anonymous said...

I have an update on my daughter Na'Vita she left us on June 1st. She died in her daddy's arms in the morning. She has given strength to our whole family. Samantha xoxo

Heidi said...

SO sorry Samantha. I am so glad you had such a beautiful time with her. May your family find peace in the coming days, weeks, months, and years......... ((((((((HUGS))))))))))

Anonymous said...

thanks heidi! i have found tons of strength through this journey, and I am not stopping once I clear my head I am spreading Na'Vita's battle with the world and how she proved these doctors wrong. I feel my story is strong and powerful and because of all of you I can truly say I do not feel alone, and I don't want not one woman or family to go through anything like this alone. It is because of the power of this blog from the power of our LORD above I am where I am NOW. THANK YOU TO ALL OF YOU xoxo

teresamnj said...

Hi Heidi! I read about your story on "Quilt Story" and came over to visit your blog. Your baby boy is adorable, and I love the quilt. From there I came here to read about Jamie Lynn, and it brought tears to my eyes. What a precious, beautiful little girl. You and others who have gone through what you & your family have, have my heartfelt sympathy. What strong, amazing women you all are.

Sharon - Lilabelle Lane said...

Hi Heidi, I to have just come from "Quilt Story" to visit you. All your boys are adorable and your baby boy is super cute on your quilt. As I sit here with tears rolling down my face I think of the strong person that you, your family and the other families are. Thank you for sharing your story and your photos. Your Jamie Lynn is your Angel in Heaven but know that she has touched my heart like no other. Thank you xx

Heidi said...

Just everyone reading about her warms my heart. The extra love and hugs bring a spring into my step!!

Thanks so much for stopping by!!!!

nikkimc78 said...

Hi, we were told our baby had TD when we went for our 20 week scan, the doctors didnt really explain it to us and made us feel that termination was our only choice, We were told we would get a birth certificate for our baby but when she was born we were told we wouldnt as it was classed as a missed termination :( this was very hard to deal with, We had a little girl called Leah Emily in 2003, she was still born, We wish we had more info on TD at the time as we would of never allowed for the termination if we had known there was a chance we could of spent even a few minutes with our little girl
This is wonderfull that you have made this so families can come and share a little of something that not many people know about
Thank you xxx

Heidi said...

nikkimc78: I am sorry for your loss. I imagine you miss her dearly! Thank you for your kind words. I decided to share our story because I find that many families don't know that they have a choice other than the one recommended by medical professionals. While I understand the choice some make to terminate, I just want to empower parents with information so they can make the best choice for their family.
Sending (((((((((HUGS)))))))) your way!

nikkimc78 said...

Its a great thing you are doing, ifwe had knows that there was chance we coould of had even a few moments with leah we would never of just gone with what the medical professionals were telling us to do, keep doign what your doing its a really good thing, this site is the first ive come across in 8 years.