Oral-Facial-Digital Syndrome Type II
Clinical Definition and Features
|Figure X-1: Facial features including hairy forehead, transverse slanting of palpebral fissures, with wide abnormal left nostril, broad nasal root, left lateral cleft lip and scar like tissue on the right side. | Photo courtesy of Science Direct Opens in new window|
Oral-Facial-Digital Syndrome Type II (also known as Mohr Syndrome) is an autosomal-recessive syndrome characterized by following facial features: lobate tongue, nodular hamartomas of the tongue, midline cleft of the upper lip, usually intact but high, arched palate, hypertrophied frenulum, dystopia canthorum with broad nasal root, broad nose with bifid tip, hypoplastic mandible, and variably absent mandibular central incisors.
Additional findings include malformed incus and conductive hearing defect, short stature, digital anomalies (syndactyly, brachydactyly, clinodactyly, polydactyly) and bilateral reduplicated hallux, first metatarsal, cuneiform, and cuboid bones.
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