Mandibulofacial dysostosis with alopecia

Definition:

Mandibulofacial dysostosis with alopecia (MFDA) is a syndrome caused by de novo missense substitutions in EDNRA gene. The mandibulofacial dysostoses (MFDs) are characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids. All MFDA-affected individuals present with alopecia.

References:

[1]. Christopher T Gordon, et al. Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia. Am J Hum Genet. 2015 Apr 2;96(4):519-31. [Content Brief]

[2]. Lisa J Cushman, et al. Johnson-McMillin syndrome: report of a new case with novel features. Birth Defects Res A Clin Mol Teratol. 2005 Sep;73(9):638-41. [Content Brief]

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