Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI

We describe the case of a male patient with orofaciodigital (OFD) syndrome type XVI with a homozygous variant of TMEM107 (p.Phe106del) and the additional findings of tibial dysplasia, which is a pivotal finding of OFD syndrome type IV. His family history included two fetuses with anencephaly with or without cleft lip/palate and polydactyly with no genetic information. Careful attention should be given to the interpretation of this rare pattern.

Automated summary

We report a male patient with orofaciodigital (OFD) syndrome type XVI, who had a homozygous variant of TMEM107 gene (p.Phe106del), and tibial dysplasia, which is a crucial feature of OFD syndrome type IV. His family history included two fetuses with anencephaly, with or without cleft lip/palate and polydactyly, but no genetic information was available. Careful attention should be paid to the interpretation of this rare phenotype.