Engelsk definition
A heterogenous group of genetic disorders characterized by scar-like atrophic lesions on the temple region of the head including preauricular area. Location of skin defects is likely related to defects in fusion of embryonic facial prominences during development of the face. Focal facial dermal dysplasia (FFDD) is generally divided into four subtypes according to the location of the lesions and inheritance pattern: FFDD1 (Brauer syndrome); FFDD2 (Brauer-Setleis syndrome); FFDD3 (Setleis syndrome); and FFDD4. Mutations in TWIST2 Protein and/or CYP26C1 (see CYP26 FAMILY) are associated with FFDD3, and 4.
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
Facial Ectodermal Dysplasias — Dysplasia, Facial Ectodermal — Ectodermal Dysplasia, Facial — Ectodermal Dysplasias, Facial — Facial Ectodermal Dysplasia — Focal Facial Dermal Dysplasia 3 — Setleis Syndrome — FFDD, Type 3 — Type 3 FFDD — Focal Facial Dermal Dysplasia 1 — Hereditary Symmetrical Aplastic Nevi of Temples — FFDD, Type 1 — Type 1 FFDD — Bitemporal Aplasia Cutis Congenita — Focal Facial Dermal Dysplasia Type 1 — Brauer Syndrome — Syndrome, Brauer — Focal Facial Dermal Dysplasia 2 — FFDD, Type 2 — Type 2 FFDD — Bitemporal Forceps Marks Syndrome — Brauer-Setleis Syndrome — Brauer Setleis Syndrome — Focal Facial Dermal Dysplasia, Type II — Focal Facial Dermal Dysplasia Type 2 — Focal Facial Dermal Dysplasia 4 — FFDD, Type 4 — Type 4 FFDD — Type 4 FFDDs — Focal Facial Dermal Dysplasia Type 4