How Do You Spell THANATOPHORIC DWARFISM?

Pronunciation: [θˌanɐtəfˈɒɹɪk dwˈɔːfɪzəm] (IPA)

Thanatophoric dwarfism is a rare genetic disease that causes severe skeletal abnormalities, including short limbs and a small rib cage. The word "thanatophoric" comes from the Greek words "thanatos" meaning death and "phoros" meaning bearing, referring to the high mortality rate of affected infants. The pronunciation of this word is [θænətoʊˈfɔrɪk ˈdwɔrˌfɪzəm], with stress on the second syllable of "thanatophoric" and the first syllable of "dwarfism". Understanding the proper pronunciation and spelling of medical terms is crucial in healthcare communication.

THANATOPHORIC DWARFISM Meaning and Definition

  1. Thanatophoric dwarfism is a rare and severe skeletal disorder characterized by abnormal bone development, leading to significant physical abnormalities and often resulting in death shortly after birth, hence the prefix "thanato-", meaning death. It is considered one of the most severe forms of skeletal dysplasia.

    Individuals with thanatophoric dwarfism have abnormally short limbs, disproportionate to the size of their trunk. This condition is caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, impairing the normal growth and development of bones. The mutations can occur spontaneously or may be inherited in an autosomal dominant manner.

    In addition to the limbs, individuals may also exhibit a narrow chest and small ribs, which can lead to respiratory difficulties and respiratory failure, further contributing to the life-threatening nature of this condition. Thanatophoric dwarfism can also affect the development of the brain, causing hydrocephalus (excessive accumulation of fluid in the brain) and intellectual disabilities.

    Due to the severe nature of this condition and its limited treatment options, the prognosis for individuals with thanatophoric dwarfism is generally poor. However, advancements in medical technology and interventions, such as surgical interventions to alleviate respiratory and neurological complications, may improve outcomes for some affected individuals.

    Overall, thanatophoric dwarfism is a rare and severe skeletal disorder characterized by abnormal bone development, short limbs, respiratory difficulties, and a high risk of early death.

Common Misspellings for THANATOPHORIC DWARFISM

  • rhanatophoric dwarfism
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  • tganatophoric dwarfism
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  • thznatophoric dwarfism
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  • thwnatophoric dwarfism
  • thqnatophoric dwarfism
  • thabatophoric dwarfism
  • thamatophoric dwarfism
  • thajatophoric dwarfism
  • thahatophoric dwarfism

Etymology of THANATOPHORIC DWARFISM

The word "thanatophoric" originates from two Greek words: "thanatos" meaning "death" and "phoros" meaning "bearing" or "carrying". This term was coined by a team of medical researchers to describe a specific type of dwarfism that is often fatal.

The term "thanatophoric dwarfism" was first introduced in 1967 by a group of doctors including Dr. John Opitz, Dr. Robert Reynolds, and Dr. John Horton, who were studying a set of abnormalities found in newborns. These abnormalities included extremely short limbs, a disproportionately large head, and other skeletal malformations. The condition was named "thanatophoric" due to its association with a high rate of stillbirths and early neonatal death.

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