Oral-facial-digital syndrome type 1 (Q57129): Difference between revisions

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Latest revision as of 04:48, 14 August 2026

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).

Language	Label	Description	Also known as
default for all languages	ID_192000485
English	Oral-facial-digital syndrome type 1	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).