Hearing assessment in children with ACH

Abstract

Achondroplasia is the most common skeletal dysplasia that causes short stature and it is characterized by rhizomelia, macrocephaly, midface hypoplasia, and normal cognition. This condition is caused by a mutation in the FGFR3 gene, affecting endochondral bone growth. In the field of otolaryngology, in addition to obstructive sleep apnea, it is often accompanied by otitis media with effusion. However, hearing loss is mild-to-moderate, which makes it difficult for parents and medical professionals to detect. Even if symptoms are not clear, it is necessary to inform pediatricians, neurosurgeons, and pediatric orthopedic surgeons, involved from infancy, so that patients can visit an otolaryngologist, including for a hearing test, by close to the age of one year. In addition, because there are patients with hearing loss not caused by otitis media, it is necessary to monitor progress until subjective hearing tests can be performed separately for the left and right ears.