achondroplasia
Pronunciation: ay-kon-druh-PLAY-zhuh
Most common form of dwarfism caused by a genetic mutation affecting cartilage and bone development.
Full Definition
Achondroplasia is the most prevalent form of skeletal dysplasia, resulting from mutations in the FGFR3 gene that affect cartilage formation. Children with this condition have characteristic features including short stature, rhizomelic limb shortening, macrocephaly, and frontal bossing. Early recognition is important for monitoring potential complications such as sleep apnea, spinal stenosis, and hydrocephalus. Growth charts specific to achondroplasia are used rather than standard pediatric growth charts.
Usage
Usage note: Always use the medical term rather than outdated terminology like 'dwarfism' in clinical documentation.
In Context
- "The infant's achondroplasia was suspected based on rhizomelic limb shortening and macrocephaly." — Medical record documentation
- "Parents with achondroplasia require genetic counseling regarding inheritance patterns for future pregnancies." — Clinical consultation note