MedlinePlus Health Topics

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/MEDLINEPLUS/C0039743
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0039743
Preferred Name

Dwarf, thanatophoric

Definitions
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.~Researchers have described two major forms of thanatophoric dysplasia, type I and type II. 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.~The term thanatophoric is Greek for "death bearing." 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.
Synonyms
Thanatophoric dysplasia
Thanatophoric short stature
Thanatophoric dwarfism
Type http://www.w3.org/2002/07/owl#Class
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