Oral-facial-digital syndrome type 1 (OFDS1)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Oral-facial-digital syndrome type 1 (OFDS1). The transmission is X-linked. Fully referenced neurology checklist.

Genetics

  • The transmission is X-linked

Digital malformations

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Other features

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References

  1. Hunter JM, Kiefer J, Balak CD, et al. Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification. Am J Med Genet A 2015; 167A:931-973.

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