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Focal Facial Dermal Dysplasias MeSH Descriptor Data 2024


MeSH Heading
Focal Facial Dermal Dysplasias
Tree Number(s)
C16.131.077.350.568
C16.131.831.350.568
C16.320.850.250.568
C17.800.804.350.568
C17.800.827.250.568
Unique ID
D000090303
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D000090303
Scope Note
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.
Entry Term(s)
Bitemporal Aplasia Cutis Congenita
Bitemporal Forceps Marks Syndrome
Brauer Syndrome
Brauer-Setleis Syndrome
FFDD, Type 1
FFDD, Type 2
FFDD, Type 3
FFDD, Type 4
Facial Ectodermal Dysplasias
Focal Facial Dermal Dysplasia 1
Focal Facial Dermal Dysplasia 2
Focal Facial Dermal Dysplasia 3
Focal Facial Dermal Dysplasia 4
Focal Facial Dermal Dysplasia Type 1
Focal Facial Dermal Dysplasia Type 2
Focal Facial Dermal Dysplasia Type 4
Focal Facial Dermal Dysplasia, Type II
Hereditary Symmetrical Aplastic Nevi of Temples
Setleis Syndrome
Previous Indexing
Ectodermal Dysplasia (1979-2021)
Public MeSH Note
2022
History Note
2022
Date Established
2022/01/01
Date of Entry
2021/07/09
Revision Date
2021/05/10
Focal Facial Dermal Dysplasias Preferred
Focal Facial Dermal Dysplasia 3 Narrower
Focal Facial Dermal Dysplasia 1 Narrower
Focal Facial Dermal Dysplasia 2 Narrower
Focal Facial Dermal Dysplasia 4 Narrower
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