Catalog

Oral-facial-digital syndrome type 1

No MMS code

Link to WHO Definition

Oral-facial-digital syndrome type 1 – http://id.who.int/icd/entity/192000485

Orofaciodigital syndrome type 1 (OFD1) is characterised by malformations of the face (frontal bossing, facial asymmetry, hypertelorism, broadened nasal bridge, facial milia), oral cavity (pseudoclefting of the upper lip, cleft palate and tongue, high arched palate, tethering of the tongue by frenulae, abnormal dentition), and digits (syndactyly, brachydactyly, clinodactyly, polydactyly).