achondroplasia
Definition
Noun: A genetic (inherited) disorder of bone growth that is present from before birth. It is characterized by the faulty conversion of cartilage into bone, particularly in the long bones of the arms and legs, resulting in a common type of short-limbed dwarfism.
Usage
"Achondroplasia" is a medical term used specifically to name this condition. It is typically used in clinical, scientific, and formal descriptive contexts.
Examples
- The pediatrician diagnosed the newborn with achondroplasia after noting the characteristic physical features.
- Achondroplasia is the most frequent cause of disproportionate short stature.
- Research into the genetics of achondroplasia has identified a specific mutation in most cases.
Advanced Usage
- The term is often discussed in the context of genetic counseling for families with a history of the condition.
- In medical literature, achondroplasia is frequently contrasted with other forms of skeletal dysplasia.
Variants and Related Words
- Achondroplastic (adjective): Pertaining to or affected by achondroplasia.
- The study followed the growth patterns of achondroplastic children.
Synonyms
- Chondrodystrophy (a broader, sometimes synonymous term for certain skeletal disorders)
- Dwarfism (a general descriptive term for short stature, of which achondroplasia is a specific type)
Related Phrases / Collocations
- Diagnosed with achondroplasia
- Achondroplasia gene/mutation
- Management of achondroplasia
- Achondroplasia support group
Noun
-
an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism
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