Rare: 1/250,000. They all belong to a group of ciliopathies and syndromes sharing some anomalies:

-        facial: hypertelorism, frontal bossing, cleft palate

-        oral: lobulated tongue, lingual harmatomas, ankyloglossia, alveolar and dental anomalies (absence of teeth); sometimes hypoplasia of the epiglottis

-        limbs: polydactyly, syndactyly

-        a variable degree of mental disability

There are 13 subtypes including:

- I (Papillon-Leage-Psalm syndrome) [MIM 311 200], the most frequent; X-linked due to a mutation of the OFD1 gene that codes for protein regulating the length and organisation of the centrosomse of the  primary cilia (embryogenesis). It is  lethal in males and associated with polycystic kidneys (chronic renal failure in adulthood)  and sometimes malformations of the central nervous system (agenesis of the corpus callosum, Dandy-Walker)

- II, (Mohr syndrome) [MIM 252 100]: autosomal recessive transmission; lobulated tongue, lingual hamartoma, median cleft, absence of the median incisors, polydactyly, sometimes a heart defect or bifid nose, conduction deafness

- III (Sugarman syndrome): small supernumerary teeth, myoclonus or blinking of eyes and movements of the jaws, red spots on the macula

- IV (Mohr-Majewski syndrome) [MIM 258 860]: autosomal recessive transmission of a mutation of the TCTN3 gene; lobulated tongue, lingual hamartoma, polydactyly, short limbs, renal cysts, sometimes cardiac malformation or encephalocele; in general lethal

- (V) (Thurston syndrome); autosomal recessive transmission; median cleft lip

- VI (Varadi Papp syndrome) [MIM 277 170]: autosomal recessive transmission of a mutation of the TMEM216 gene, cerebellar anomalies (Dandy-Walker, hypoplasia of the vermis)

- VII (Whelan syndrome), autosomal recessive transmission; hydronephrosis, facial asymmetry, preauricular appendices

- VIII (Edwards syndrome), X-linked transmission; retinal abnormalities, forked tongue, multiple lingual hamartoma

- IX: autosomal recessive transmission; median cleft lip, multiple lingual frenuli and retinal abnormalities

- X includes fibular aplasia and severe cerebral atrophy

- XI (Toriello syndrome); autosomal recessive transmission; median cleft lip, atrophy of the frontal and parietal lobes

Anesthetic implications:

echocardiography if type II or IV; risk of difficult intubation and frequent pulmonary infections in case of hypoplasia of the epiglottis; fragile teeth

References : 

-         Goudar PHK, Joshi P, Hiremath SV, Gai PB. 
Mohr syndrome: a rare case of oro-facial-digital syndrome type II with congenital heart disease. 
Int J Case Reports 2012; 3:32-6.

-         McKinnie JE, Abdullah AN, Ramanathan J.  
Anesthetic considerations in a parturient with Oral-Facial-Digital syndrome and repaired tetralogy of Fallot with left ventricular dysfunction. 
Int J Obstetr Anesth 2014 ; 23 : 182-5.

Updated: November 2018