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Condition report · Neurological

Orofaciodigital Syndrome Type 14

A rare ciliopathy affecting the mouth, face, fingers and toes, and sometimes the brain. It is caused by changes in both copies of the C2CD3 gene.

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The condition we analyse

Autosomal recessive

Caused by changes in both copies of the C2CD3 gene, which is needed to build cilia, tiny structures on cells involved in signalling during development.

Signs and symptoms

Mouth, face and finger or toe differences, as seen in orofaciodigital syndromes. Some people have a small head size and brain malformations.

What a diagnosis changes

Care includes cleft and oral surgery, hand and foot surgery where needed, and developmental, feeding and seizure care. Genetic counselling is recommended, and carrier testing is available for relatives.

Genes analysed

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 XIV

MONDO:0014413OMIM 615948Orphanet 434179MedGen 1635470Sources: [1][2][3]

References

  1. Bruel AL, Franco B, Duffourd Y, Thevenon J, Jego L, Lopez E et al., 2018. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. Journal of medical genetics
  2. Cortés CR, McInerney-Leo AM, Vogel I, Rondón Galeano MC, Leo PJ, Harris JE et al., 2017. Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function. Scientific reports
  3. Sentell ZT, Mougharbel L, Nurcombe ZW, Babayeva S, Henein M, Chu LL et al., 2025. Use of patient-derived cell models for characterization of compound heterozygous hypomorphic C2CD3 variants in a patient with isolated nephronophthisis. Human molecular genetics

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