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. [ Orphanet:434179 ]
Synonyms: C2CD3 orofaciodigital syndrome orofaciodigital syndrome type 14 microcephaly-cerebral malformation-orofaciodigital syndrome OFD14 oral-facial-digital syndrome type 14 orofaciodigital syndrome caused by mutation in C2CD3
Term information
- SCTID:763837007 (MONDO:equivalentTo)
- UMLS:C4706604 (MONDO:equivalentTo)
- Orphanet:434179 (OMIM:615948)
- GARD:13655 (Orphanet:434179)
- OMIM:615948 (Orphanet:434179/e)
gard_rare, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen
http://identifiers.org/snomedct/763837007
https://omim.org/entry/615948
http://linkedlifedata.com/resource/umls/id/C4706604
http://www.orpha.net/ORDO/Orphanet_434179