How Do You Spell THANATOPHORIC DYSPLASIA?

Pronunciation: [θˌanɐtəfˈɒɹɪk dɪsplˈe͡ɪzi͡ə] (IPA)

Thanatophoric Dysplasia is a rare genetic disorder caused by mutations in the FGFR3 gene. The disorder is characterized by abnormal bone development and stunted growth, which can result in life-threatening complications. The term "thanatophoric" comes from the Greek words "thanatos" meaning "death" and "phoros" meaning "bearing". The word "dysplasia" comes from the Greek words "dys" meaning "abnormal" and "plassein" meaning "to form". The IPA phonetic transcription for "thanatophoric dysplasia" is /θænətəˈfɔrɪk dɪsˈpleɪʒə/.

THANATOPHORIC DYSPLASIA Meaning and Definition

1. Thanatophoric dysplasia is a rare and severe congenital disorder characterized by abnormal skeletal development and is considered one of the most lethal forms of dwarfism. The term "thanatophoric" originates from the Greek words "thanatos" meaning "death" and "phoros" meaning "bearing," reflecting the high mortality rate associated with this condition.

   Individuals with thanatophoric dysplasia exhibit distinct physical characteristics including extremely short limbs, a disproportionately large head, narrowed chest, and underdeveloped lungs. They often have a narrow foramen magnum, a small ribcage, and other bone abnormalities. Due to the restricted growth of the chest wall and the underdeveloped lungs, affected individuals may experience life-threatening respiratory complications.

   The genetic cause of thanatophoric dysplasia is most often a sporadic mutation that occurs during early fetal development. The condition is typically caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, which is responsible for regulating bone growth. Usually, one copy of the FGFR3 gene is mutated, leading to interference with normal skeletal development.

   Due to the severe complications and limitations associated with this condition, individuals with thanatophoric dysplasia often have a reduced life expectancy. Treatment options are limited, focusing mainly on alleviating symptoms and providing supportive care. However, advances in medical intervention, such as respiratory assistance and physical therapy, may improve the quality of life for affected individuals.

Common Misspellings for THANATOPHORIC DYSPLASIA

• rhanatophoric dysplasia
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• thabatophoric dysplasia
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• thajatophoric dysplasia
• thahatophoric dysplasia

Etymology of THANATOPHORIC DYSPLASIA

The word "Thanatophoric Dysplasia" consists of two main components: "thanatophoric" and "dysplasia".

1. "Thanatophoric" is derived from two Greek words: "thanatos" meaning "death" and "phoros" meaning "carrying" or "bearing". It can be interpreted as "carrying death" or "death-bringing". This term in medical context refers to the severe consequence of the condition.

2. "Dysplasia" comes from the Greek words "dys" meaning "abnormal" or "faulty", and "plasis" meaning "formation" or "growth". It is often used to describe the abnormal development or growth of certain body tissues or organs. In this context, it refers to the specific skeletal abnormalities associated with the condition.