[MIM 252 100] 

(orofaciodigital type 2 syndrome)

Rare. Autosomal recessive transmission.

Association of:

-        hypoplasia of the face with a lobulated tongue, lingual hamartomas, medial cleft palate, agenesis of medial incisors , low set ears, hypertelorism and antimongoloid orientation of palpebral fissures

-        bifid nasal tip,

-        conduction deafness

-        bilateral pre-axial polydactyly, partial duplication of the big toe, syndactyly

-        short stature, pectus excavatum

-        sometimes heart defect

This form of orofaciodigital syndrome is characterized by an involvement of the central nervous system: cerebellar atrophy, hydrocephalus and porencephaly.

Anesthetic implications:

possible risk of difficult mask ventilation and/or intubation; echocardiography

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.

Updated: April 2017