Details of Disease

General Information of Disease (ID: DISUJZH1)

Disease Name Focal facial dermal dysplasia type III
Synonyms
bitemporal forceps Marks syndrome; FFDD type 2; focal Facial dermal dysplasia, type II; focal facial dermal dysplasia type 2; facial ectodermal dysplasia; bitemporal forceps marks syndrome; focal Facial dermal dysplasia, type II, formerly; Setleis syndrome; FFDD type III; focal facial dermal dysplasia 3, Setleis type; FFDD3; focal facial dermal dysplasia type III
Definition
Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.
Disease Hierarchy
DISYK1OV: Focal facial dermal dysplasia
DISUJZH1: Focal facial dermal dysplasia type III
Disease Identifiers
MONDO ID
MONDO_0009203
UMLS CUI
C1744559
OMIM ID
227260
MedGen ID
315643
Orphanet ID
1807

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TWIST2 OTYH4BDG Strong Autosomal recessive [1]
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This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RHOA TTP2U16 Strong Biomarker [2]
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References

1 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. J Med Genet. 2011 Oct;48(10):716-20. doi: 10.1136/jmedgenet-2011-100251.
2 Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.Nat Genet. 2019 Oct;51(10):1438-1441. doi: 10.1038/s41588-019-0498-4. Epub 2019 Sep 30.