Thanatophoric Dysplasia

What is Thanatophoric dysplasia?

The term thanatophoric is Greek for "death bearing" and dysplasia is Greek for "malformation" and is used in pathology terminology to refer to an abnormality of development. Thanatophoric dysplasia literally means "death bearing malformation." It is a skeletal disorder in which infants born with this condition are usually stillborn or die shortly after birth from respiratory failure.

There are two types of Thanatophoric dysplasia. It is a short-limb dwarfism syndrome, in which type I is characterized by micromelia with bowed femurs and, uncommonly, the presence of cloverleaf skull deformity (kleeblattschaedel) of varying severity; and type II, is characterized by micromelia with straight femurs and uniform presence of moderate-to-severe cloverleaf skull deformity.

Features of thanatophoric dysplasia include macrocephaly, narrow bell-shaped thorax, normal trunk length, and severe shortening of the limbs. 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. Most affected infants die of respiratory failure shortly after birth.

For more information on Thanatophoric dysplasia please visit these sites:

NCBI National Center for Biotechnology Information

Genetics Home Referenc U.S. National Library of Medicine

eMedicine WebMD


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