Thanatophoric dysplasia

Common Name(s)

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

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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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 33 free, full-text research articles on human participants. First 3 results:

A case of thanatophoric dysplasia type 2: a novel mutation.
 

Author(s): Selvi Gülaşı, Aytuğ Atıcı, Yalçın Çelik

Journal: J Clin Res Pediatr Endocrinol. 2015 Mar;7(1):73-6.

 

Thanatophoric dysplasia (TD) is a lethal form of skeletal dysplasia with short-limb dwarfism. Two types distinguished with their radiological characteristics have been defined clinically. The femur is curved in type 1, while it is straight in type 2. TD is known to be due to a mutation ...

Last Updated: 24 Mar 2015

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Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.
 

Author(s): Lyn S Chitty, Sarah Mason, Angela N Barrett, Fiona McKay, Nicholas Lench, Rebecca Daley, Lucy A Jenkins

Journal: Prenat. Diagn.. 2015 Jul;35(7):656-62.

 

Accurate prenatal diagnosis of genetic conditions can be challenging and usually requires invasive testing. Here, we demonstrate the potential of next-generation sequencing (NGS) for the analysis of cell-free DNA in maternal blood to transform prenatal diagnosis of monogenic disorders.

Last Updated: 3 Jul 2015

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Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization.
 

Author(s): Nuala Del Piccolo, Jesse Placone, Kalina Hristova

Journal: Biophys. J.. 2015 Jan;108(2):272-8.

 

Thanatophoric dysplasia type I (TDI) is a lethal human skeletal growth disorder with a prevalence of 1 in 20,000 to 1 in 50,000 births. TDI is known to arise because of five different mutations, all involving the substitution of an amino acid with a cysteine in fibroblast growth factor ...

Last Updated: 22 Jan 2015

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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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Symptoms, Diagnosis, and Treatment

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