achondroplasiaan
Achondroplasiaan is not a widely recognized medical term in standard literature; it appears to refer to achondroplasia, the best-known form of disproportionate short stature. Achondroplasia is a skeletal dysplasia characterized by rhizomelic limb shortening and macrocephaly with frontal bossing, while the trunk remains relatively normal in size.
It results from an activating mutation in the FGFR3 gene, typically the FGFR3 G380R variant. The condition
Clinically, affected individuals have short limbs with relatively short bones in the arms and legs, a prominent
Diagnosis is based on clinical features and radiographs showing rhizomelic shortening, metaphyseal flaring, and characteristic skull
Management requires a multidisciplinary approach. Care focuses on respiratory problems in infancy, sleep apnea, ear infections,
Epidemiology estimates place the incidence at about 1 in 15,000 to 40,000 live births, with prevalence around