Thereasonfor the diseaseisamutationinthefibroblastgrowthfactor-receptor3gene,whichamongotherthingsisresponsibleforbonedevelopment.Thegeneisinheritedautosomaldominant.Theprognosisisverypoor.Mostpatientsdieintrauterineorshortlyafterbirth.
Thanatophoric dysplasia is a common disorder of dysplasia of the skeleton characterized by micromelia, macrocephaly, and narrow thorax. Preliminary narrations of slavery development can already be identified: In the first trimester ultrasound shows an ulceration of the iliac bones, in the second trimester there is a strong decrease in growth, as well as macrocephaly and an enlarged ventricle. Other stumps are curved femur bones, cloverleaf skull and a hydramnion.
The primary cause is a mutation in the fibroblast growing factor receptor 3 gene, which is responsible, inter alia, for bone development. The gene is inherited autosomal dominant. The prognosis is very poor: most patients die intrauterine or shortly after birth.