Congenital musculoskeletal diseases are relatively uncommon, of which the otopalatodigital syndrome is even rare. Recently, the authors have experienced a case of otopalatodigital syndrome which has the characteristics of hearing loss, cleft palate and abnormalities of extremities. The patient, an 8 year old boy, visited SNUH with the chief complaint of inborn hearing loss. He underwent a palatoplasty for cleft palate in the past and had abnormally long second toe of the feet. The diagnosis of otopalatodigital syndrome was confirmed by consultations with departments of pediatrics and orthopedics and by audiometry & temporal bone CT scan. An exploratory tympanotomy was performed, in which deformities of the malleus & incus and narrow oval window niche were observed.