Occurring in 1/20,000 to 1/50,000 births, it was understood to be lethal soon after birth due to difficulty with ventilation and development of respiratory failure.
What is Thanatophoric skeletal 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 .
Is there a cure for Thanatophoric dysplasia?
There is no cure for thanatophoric dysplasia, so treatment options typically involve management of existing conditions as well as decisions impacting the delivery of the baby. Vaginal birth, for instance, may not be safely possible.
Is Thanatophoric dysplasia hereditary?
How is thanatophoric dysplasia inherited? Thanatophoric dysplasia follows an autosomal dominant inheritance pattern. All cases are a result of spontaneous gene mutations (1).
Can babies with skeletal dysplasia survive?
About half of fetuses with skeletal dysplasia are stillborn or die within the first six weeks of life. But not all children with dysplasias have severe medical problems. Many of these children can live relatively normal lives.
What is thanatophoric dysplasia type 2 (TD2)?
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Thanatophoric dysplasia, type 2 (TD2) is a form of TD (see this term) characterized by micromelia, straight long-bones, macrocephaly, brachydactyly, shortened ribs and a clover-leaf skull ( kleeblattschaedel ).
What is the difference between Type 1 and Type 2 dysplasia?
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.
What is the prognosis of thanatophoric dysplasia?
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. This condition occurs in 1 in 20,000 to 50,000 newborns.
Is thanatophoric dysplasia autosomal dominant or recessive?
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.
