Oral-Facial-Digital Syndrome Type II

Clinical Definition and Features

Patient with EDP
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.

See also:
  1. Bellosta M, Trespiolli D, Ghiselli E, et al. Focal dermal hypoplasia: report of a family with 7 affected women in 3 generations. Eur J Dermatol 1996;6:499-500.
  2. Goltz RW. Focal dermal hypoplasia syndrome: an update (Editorial). Arch Dermatol 1992;128:1108-1111.
  3. Holzman RS. Airway involvement and anesthetic management in Goltz ‘s syndrome. J Clin Anesth 1991;3:422-425.