Orofaciodigital syndrome type 14
Orofaciodigital syndrome type 14
Definition
Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.
Also known as C2CD3 orofaciodigital syndrome, microcephaly-cerebral malformation-orofaciodigital syndrome, OFD14, oral-facial-digital syndrome type 14, orofaciodigital syndrome caused by mutation in C2CD3, orofaciodigital syndrome type 14 — per MONDO