Mohr Syndrome

Very rare familial association of deafness with minor facial hypoplasia and minor midline cleft (tongue, lip, palate). Symptoms include frequent episodic neuromuscular disturbances, congenital malformations such as cleft palate, malformation of the hands and feet, shortened limbs, and differing degrees of mental retardation.

(Figure)

Oral-Facial-Digital Syndrome Type II; ORF Syndrome II; Orofaciodigital Syndrome II.

Remains unknown.

First described in 1941 by the Norwegian geneticist Otto L. Mohr, who was the uncle of Professor Jan Mohr of Copenhagen.

Fewer than 50 cases reported. Affects male and female equally. Autosomal recessive.

Conductive hearing loss (anomaly of unci); mild hypoplasia of zygomatic arch, maxilla and body of mandible; flat nasal bridge; partial cleft of lip or palate, hyperplastic frenulum; midline cleft of tongue and/or nodules on the tongue; short stature, partial reduplication of big toe, polydactyly; flared epiphyses.

No report in the anesthetic literature, but the presence of maxillary and mandibular hypoplasia associated to a cleft palate may lead to difficult direct laryngoscopy and tracheal intubation. No other specific considerations with this condition.