Recently, in humans the non-synonymous sequence variation within the EDNRA gene at the corresponding position (NM_001957.3:c.386A>T, NP_001948.1:p.Tyr129Phe) was published as disease causing in three unrelated individuals with MFDA (OMIM 616367) (Gordon et al. 2015). Here, EDNRA is linked to mandibulofacial dysostosis with alopecia.