KEGG DISEASE: Focal facial dermal dysplasia

KEGG

DISEASE: Focal facial dermal dysplasia

Entry

H02083                      Disease

Name

Focal facial dermal dysplasia

Description

The focal facial dermal dysplasias (FFDDs) are a group of inherited disorders of facial development, characterized by skin lesions resembling aplasia cutis congenita. Four subtypes are classified by the bitemporal (FFDD1-3) or preauricular (FFDD4) lesion location. FFDD1-3 are differentiated by additional facial abnormalities and inheritance patterns.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H02083  Focal facial dermal dysplasia

Gene

(FFDD3) TWIST2 [HSA:117581] [KO:K09069]
(FFDD4) CYP26C1 [HSA:340665] [KO:K12665]

Comment

The genetic defects causing FFDD1 and FFDD2 remain unknown.

Other DBs

ICD-11:

MeSH:

OMIM:

136500 227260 614974

Reference

Authors

Lee BH, Aggarwal A, Slavotinek A, Edelmann L, Chen B, Desnick RJ

Title

The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity.

Journal

J Med Genet 54:585-590 (2017)
DOI:10.1136/jmedgenet-2017-104561

Reference

Authors

Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, Morren MA, Devriendt K, Kwok PY, Petkovich M, Desnick RJ

Title

Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.

Journal

Hum Mol Genet 22:696-703 (2013)
DOI:10.1093/hmg/dds477

Reference

Authors

Cervantes-Barragan DE, Villarroel CE, Medrano-Hernandez A, Duran-McKinster C, Bosch-Canto V, Del-Castillo V, Nazarenko I, Yang A, Desnick RJ

Title

Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification.

Journal

J Med Genet 48:716-20 (2011)
DOI:10.1136/jmedgenet-2011-100251

LinkDB

» Japanese version

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