Paula and Bobby
Parents of Lillie
Thanatophoric dysplasia syndrome
What is Thanatophoric dysplasia syndrome?
It is a rare skeletal disorder that presents with very short limbs as well as folds of skin on the arms and legs. The syndrome is severe and most infants with the syndrome are stillborn or die very soon after birth from respiratory failure. Very few survive into childhood and those that do require considerable medical assistance.
What gene changes cause Thanatophoric dysplasia syndrome?
Mutations in the FGFR3 gene are responsible for causing the syndrome. These mutations cause the gene to be overactive which in turn causes the issues with bone growth that present with the syndrome.
The syndrome can be inherited in an autosomal dominant pattern but to date most cases of the syndrome have been caused by de novo or new gene mutations.
What are the main symptoms of Thanatophoric dysplasia syndrome?
The main symptoms of the syndrome affect the development of the skeletal system and bone growth.
Physical features of the syndrome include very short limbs and folds of extra skin on the limbs. These features also include a narrow chest, short ribs and a large head with a large forehead and widely spaced eyes.
The symptoms are so severe with the syndrome that most infants do not survive birth and are born stillborn.
There are currently two recognized forms of the syndrome-
Type 1 generally presents with curbed thigh bones and flattened bones of the spine
Type 2 presents with straight thigh bones and a skull abnormality, that can range from moderate to severe, known as a cloverleaf skull.
How does someone get tested for Thanatophoric dysplasia syndrome?
The initial testing for Thanatophoric dysplasia syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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