Passer au contenu principal

Medical Subject Headings (thesaurus)

Choisissez le vocabulaire dans lequel chercher

  • Aide
aligner
annoter
télécharger

Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Ectodermal Dysplasia > Focal Facial Dermal Dysplasias
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Ectodermal Dysplasia > Focal Facial Dermal Dysplasias
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Ectodermal Dysplasia > Focal Facial Dermal Dysplasias
Skin and Connective Tissue Diseases > Skin Diseases > Skin Abnormalities > Ectodermal Dysplasia > Focal Facial Dermal Dysplasias
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Skin Abnormalities > Ectodermal Dysplasia > Focal Facial Dermal Dysplasias

Terme préférentiel

Focal Facial Dermal Dysplasias  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Synonyme(s)

  • Facial Ectodermal Dysplasias

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-N66H9RF8-X

Télécharger ce concept :

RDF/XML TURTLE JSON-LD Date de création 09/07/2021, dernière modification le 10/05/2021