Thanatophoric dysplasia

Thanatophoric Dysplasia (pronunciation: tha·na·to·phor·ic dys·pla·sia) is a severe skeletal disorder characterized by a disproportionately small ribcage, extremely short limbs and folds of extra 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.

Etymology

The term "Thanatophoric" is derived from the Greek words "Thanatos" meaning "death" and "Phoric" meaning "bearing". This term was chosen due to the lethal nature of the condition, which often results in death shortly after birth.

Types

There are two types of Thanatophoric Dysplasia, known as type 1 and type 2. Type 1 is characterized by the presence of curved thigh bones and flattened bones in the spine, while Type 2 is characterized by straight thigh bones and a moderate to severe skull abnormality known as a cloverleaf skull.

Causes

Thanatophoric Dysplasia is caused by mutations in the FGFR3 gene, which provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue.

Related Terms

• Dwarfism
• Skeletal dysplasia
• FGFR3 gene
• Cloverleaf skull

See Also

• Achondroplasia
• Osteogenesis Imperfecta
• Hypochondroplasia

External links

• Medical encyclopedia article on Thanatophoric dysplasia
• Wikipedia's article - Thanatophoric dysplasia

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