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.
Inheritance Pattern
Autosomal dominant
Other Names
Dwarf, thanatophoric; Thanatophoric dwarfism; Thanatophoric short stature
Related Genetics Topics
- FGFR3 — MedlinePlus Genetics
Identifiers
- GTR: C1300257
- GTR: C1868678
- ICD-10-CM: Q77.1
- MeSH: D013796
- OMIM: 187600
- OMIM: 187601
- SNOMED CT: 29352008
- SNOMED CT: 389158007
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
