PT - JOURNAL ARTICLE AU - Beom Hee Lee AU - Aneel Aggarwal AU - Anne Slavotinek AU - Lisa Edelmann AU - Brenden Chen AU - Robert J Desnick TI - The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity AID - 10.1136/jmedgenet-2017-104561 DP - 2017 Jun 29 TA - Journal of Medical Genetics PG - jmedgenet-2017-104561 4099 - http://jmg.bmj.com/content/early/2017/06/29/jmedgenet-2017-104561.short 4100 - http://jmg.bmj.com/content/early/2017/06/29/jmedgenet-2017-104561.full AB - Focal facial dermal dysplasias (FFDDs) are rare genetic/developmental disorders characterised by bilateral ‘scar-like’ facial lesions. Four subtypes are classified by the bitemporal (FFDD1–3) or preauricular (FFDD4) lesion location. FFDD1–3 are differentiated by additional facial abnormalities and inheritance patterns. Although the genetic defects causing FFDD1 and FFDD2 remain unknown, recent studies identified defects causing FFDD3 and FFDD4. Here, the clinical phenotypes, genetic defects and inheritance of the four FFDD subtypes are described. In addition, the overlapping facial abnormalities in FFDD3 and two other genetic disorders, Ablepharon macrostomia syndrome and Barber-Say syndrome, are noted. Familiarity with the FFDDs by clinicians will further delineate the phenotypes and genetic/developmental defects of these dermal facial disorders.