Details of Disease

General Information of Disease (ID: DIS2OCWG)

• Disease Name: Orofaciodigital syndrome type 14
• Synonyms: orofaciodigital syndrome 14; orofaciodigital syndrome XIV; orofaciodigital syndrome caused by mutation in C2CD3; microcephaly-cerebral malformation-orofaciodigital syndrome; OFD14; oral-facial-digital syndrome type 14; orofaciodigital syndrome type 14; C2CD3 orofaciodigital syndrome
• 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.
• Disease Hierarchy:
  DISSB296: Orofaciodigital syndrome
  DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
  DIS2OCWG: Orofaciodigital syndrome type 14
• Disease Identifiers:
  MONDO ID: MONDO_0014413
  UMLS CUI: C4706604
  OMIM ID: 615948
  MedGen ID: 1635470
  Orphanet ID: 434179
  SNOMED CT ID: 763837007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
C2CD3	OTC52E7V	Definitive	Autosomal recessive	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.