Thanatophoric dysplasia

Common Name(s)

Thanatophoric dysplasia, Thanatophoric dysplasia type 2 (TD2), Thanatophoric dysplasia type 1 (TD1)

Thanatophoric dysplasia (TD) is a rare, severe skeletal condition. The condition is congenital meaning a baby is born with the condition. TD results from a change in the baby’s DNA or genes (genetic). A baby born with TD will have underdeveloped bones and lungs. This condition is typically diagnosed during pregnancy during an ultrasound exam. Further genetic tests of the baby can determine the genetic mutation.

Symptoms of TD may include very short limbs, extra folds of skin, large head and forehead, shortened ribs, and underdeveloped lungs. There are two types of this condition. Thanatophoric dysplasia type 1 (TD1) is the more common type. With TD1, the leg bones (femurs) are typically curved and the baby has a normal shaped skull. Thanatophoric dysplasia type 2 (TD2) is less common. With TD2, the baby has straight leg bones, but a cloverleaf-shaped skull. Sadly, babies with both types of this condition are stillborn or pass away a short time after birth. There have been reported cases where the baby has lived slightly longer with the help of medical intervention.

The cause of both types of TD is an error (mutation) in a gene located on chromosome 4. The gene, named fibroblast growth factor receptor 3 (FGFR3), is responsible for bone and brain tissue development. When altered, the gene cannot pass along the information to make bones of the right length. This condition arises by random chance (de novo), meaning that the parents do not have the error in their own gene. Therefore, the risk of the couple having another child with this condition is low.

Unfortunately, there is no cure for TD at this time. This is a very serious condition and parents often struggle with the emotional tolls of facing this diagnosis. Therefore, if your baby has been diagnosed with thanatophoric dysplasia, it is helpful to speak with a doctor, genetic counselor, or therapist to gain information about the condition and support.

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Condition Specific Organizations

Following organizations serve the condition "Thanatophoric dysplasia" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Thanatophoric dysplasia" returned 26 free, full-text research articles on human participants. First 3 results:

Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA.
 

Author(s): Lyn S Chitty, Asma Khalil, Angela N Barrett, Eva Pajkrt, David R Griffin, Tim J Cole

Journal: Prenat. Diagn.. 2013 May;33(5):416-23.

 

To improve the prenatal diagnosis of thanatophoric dysplasia by defining the change in fetal size across gestation and the frequency of sonographic features, and developing non-invasive molecular genetic diagnosis based on cell-free fetal DNA (cffDNA) in maternal plasma.

Last Updated: 3 May 2013

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A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia.
 

Author(s): Min Jin, Ying Yu, Huabing Qi, Yangli Xie, Nan Su, Xiaofeng Wang, Qiaoyan Tan, Fengtao Luo, Ying Zhu, Quan Wang, Xiaolan Du, Cory J Xian, Peng Liu, Haiyang Huang, Yue Shen, Chu-Xia Deng, Di Chen, Lin Chen

Journal: Hum. Mol. Genet.. 2012 Dec;21(26):5443-55.

 

Gain-of-function mutations in fibroblast growth factor receptor-3 (FGFR3) lead to several types of human skeletal dysplasia syndromes including achondroplasia, hypochondroplasia and thanatophoric dysplasia (TD). Currently, there are no effective treatments for these skeletal dysplasia ...

Last Updated: 11 Dec 2012

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Disruption of a Sox9-β-catenin circuit by mutant Fgfr3 in thanatophoric dysplasia type II.
 

Author(s): Chia-Yi Shung, Sara Ota, Zi-Qiang Zhou, Douglas R Keene, Peter J Hurlin

Journal: Hum. Mol. Genet.. 2012 Nov;21(21):4628-44.

 

Mutations in fibroblast growth factor (FGF) receptors are responsible for a variety of skeletal birth defects, but the underlying mechanisms responsible remain unclear. Using a mouse model of thanatophoric dysplasia type II in which FGFR3(K650E) expression was directed to the appendicular ...

Last Updated: 16 Oct 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Thanatophoric dysplasia" returned 1 free, full-text review articles on human participants. First 3 results:

Antenatal sonographic diagnosis of thanatophoric dysplasia: a report of three cases and a review of the literature with special emphasis on the differential diagnosis.
 

Author(s): R L Schild, G H Hunt, J Moore, H Davies, D H Horwell

Journal: Ultrasound Obstet Gynecol. 1996 Jul;8(1):62-7.

 

A series of three cases is reported in which the diagnosis of thanatophoric dysplasia was reached at routine mid-trimester scanning in a District General Hospital. All three patients underwent termination of pregnancy with the diagnosis of thanatophoric dysplasia confirmed by postmortem ...

Last Updated: 26 Dec 1996

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