Oral-facial-digital syndrome type 1 (Q57129)
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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 |
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| 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). |
