Focal facial dermal dysplasia type III

The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin (summary by Slavotinek et al., 2013). FFDD2 (614973) is characterized by the same facial features as FFDD3, but the inheritance is autosomal dominant. For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (136500).

OMIM