Setleis syndrome

(redirected from FFDD, type II)

Setleis syndrome

An autosomal recessive condition (OMIM:227260) characterised by focal facial dermal dysplasia with distinctive bitemporal scar-like depressions resembling forceps marks (which histologically corresponds to ectodermal dysplasia with near absence of subcutaneous fat, suggesting insufficient migration of neural crest cells into the frontonasal process and the first branchial arch), and typical facies including a coarse and leonine appearance, absent eyelashes on both lids or multiple rows on the upper lids, absent Meibomian glands, slanted eyebrows, chin clefting, and hypo- or hyperpigmentation of the skin.

Molecular pathology
Caused by defects of TWIST2, which encodes a transcription factor that inhibits transcriptional activation of various proteins, proinflammatory cytokines and osteoblasts.