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dysplázie fokálne dermálne faciálne

  1. Subject h.dysplázie fokálne dermálne faciálne
    Subject h.Focal Facial Dermal Dysplasias
    Entry termsaplázia kože, bitemporálna vrodená
    aplasia cutis congenita, bitemporálna
    syndróm bitemporálnych znakov po kliešťovom pôrode
    Brauerov syndróm
    Brauerov-Setleisov syndróm
    FFDD, typ 1
    FFDD typu 1
    FFDD, typ 2
    FFDD typu 2
    FFDD, typ 3
    FFDD typu 3
    FFDD, typ 4
    FFDD typu 4
    dysplázie tvárové ektodermálne
    dysplázie tváre, ektodermálne
    dysplázia fokálna dermálna faciálna 1
    dysplázia fokálna dermálna faciálna 2
    dysplázia fokálna dermálna faciálna 3
    dysplázia fokálna dermálna faciálna 4
    dysplázia fokálna dermálna faciálna, typ 1
    dysplázia fokálna dermálna faciálna typu 2
    dysplázia fokálna dermálna faciálna, typ 3
    dysplázia fokálna dermálna faciálna typu 4
    névy spánkovej oblasti, dedičné symetrické aplastické
    Setleisov syndróm
    English X referencesBitemporal 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
    Hereditary Symmetrical Aplastic Nevi of Temples
    Setleis Syndrome
    Scope note in EnglishA 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.
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Number of the records: 1  

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