/orofaciodigital syndrome type 14

orofaciodigital syndrome type 14

Rare Disease

MONDO:0014413

Also Known As

C2CD3 orofaciodigital syndromeOFD14microcephaly-cerebral malformation-orofaciodigital syndromeoral-facial-digital syndrome type 14orofaciodigital syndrome caused by mutation in C2CD3orofaciodigital syndrome type 14orofaciodigital syndrome 14orofaciodigital syndrome XIV

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.