Finding CLARITY in Achondroplasia

Among young patients born with a form of dwarfism known as achondroplasia, ear, nose and throat disease is common — and so are otolaryngologic surgeries.

To find out just how common, Johns Hopkins otolaryngologist David Tunkel, geneticist Julie Hoover-Fong, and their colleagues on the Achondroplasia Natural History Study (CLARITY) team studied more than 1,300 patients with achondroplasia who were treated at Johns Hopkins and three other U.S. centers during a 60-year period to measure the frequency of common otolaryngologic surgery.

Almost half of the patients had removal of tonsils, adenoids or both, and 11% of patients had this type of pharyngeal surgery more than once. About 57% of these patients had tympanostomy tubes placed, and almost one-third had tubes placed more than once.

“Patients with achondroplasia have a remarkably high incidence of otolaryngologic disease that requires surgical treatment, and our findings help us better understand this population,” says Tunkel.