Mohr syndrome with subclinical expression of the bifid great toe.

Abstract

The Mohr syndrome (oral-facial-digital II [OFD II]) is characterized by a lobate tongue, midline cleft of the lip, high arched or cleft palate, broad nasal root with wide bifid nasal tip, hypertelorism, micrognathia, brachydactyly, syndactyly and polydactyly, bilateral reduplicated hallux, conductive hearing loss, and normal intelligence. The bifid great toe, one of the features that distinguishes OFD II from OFD I, may not extend to the soft tissue, in which case it will only be seen by radiological examination. For proper genetic counseling, it is important to establish an early diagnosis in this rare autosomal recessive syndrome.