MEDizzy
MEDizzy
SM
Syed Mohammad Hasanover 3 years ago
Achondroplasia

Achondroplasia

Achondroplasia is a genetic disorder that results in a large head (macrocephaly), short upper arms (rhizomelic dwarfism), and a short stature usually without any mental disorder. This condition is linked to mutation within the fibroblast growth factor receptor 3 (FGFR3) gene that results in skeletal dysplasia and manifests as above mentioned features. Text Reference: https://rarediseases.org/rare-diseases/achondroplasia/ Image Source: https://wiki.ubc.ca/File:Achondroplasia.jpg

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