You are using an outdated browser. Please upgrade your browser to improve your experience.

orofaciodigital syndrome type 14

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description 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.
Uniprot Description A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by malformations of the oral cavity, face and digits, and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD14 patients show severe microcephaly, cerebral malformations the molar tooth sign, and intellectual disability in addition to canonical OFDS features.
Mondo Term and Equivalent IDs
MONDO:0014413:  orofaciodigital syndrome type 14
Orphanet:434179: 
SCTID:763837007: 
UMLS:C4014780: