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.
Neonate with partial cleft of the palate and the tongue and flat nasal
bridge was diagnosed with Mohr syndrome (orofaciodigital syndrome type
Oral-Facial-Digital Syndrome Type II; ORF Syndrome II;
Orofaciodigital Syndrome II.
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.
Prpic I, Cekada S, Franulovic J: Mohr syndrome (oro-facial-digital
syndrome type II): A familial case with different phenotypic findings. Clin Genet