FFDD2
MCID: FCL066
MIFTS: 19

Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type (FFDD2)

Categories: Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type

MalaCards integrated aliases for Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type:

Name: Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type 56 58 71
Ffdd2 56 58
Focal Facial Dermal Dysplasia Type Ii 58
Brauer-Setleis Syndrome 56
Ffdd Type Ii 58

Characteristics:

Orphanet epidemiological data:

58
focal facial dermal dysplasia type ii
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 614973
OMIM Phenotypic Series 56 PS136500
UMLS via Orphanet 72 C1744559
Orphanet 58 ORPHA398173
MedGen 41 C3554245
UMLS 71 C3554245

Summaries for Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type

OMIM : 56 The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD2 is an autosomal dominant disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin. FFDD3 (227260) is characterized by the same facial features as FFDD2, but the inheritance is autosomal recessive (summary by Slavotinek et al., 2013). For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (136500). (614973)

MalaCards based summary : Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type, also known as ffdd2, is related to focal facial dermal dysplasia 3, setleis type and focal facial dermal dysplasia 1, brauer type. Affiliated tissues include skin, and related phenotypes are low-set ears and abnormality of the pinna

Related Diseases for Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type

Diseases related to Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 focal facial dermal dysplasia 3, setleis type 11.4
2 focal facial dermal dysplasia 1, brauer type 11.2
3 pathologic nystagmus 10.4
4 focal facial dermal dysplasia 10.4

Symptoms & Phenotypes for Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type

Human phenotypes related to Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type:

58 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 58 Very frequent (99-80%)
2 abnormality of the pinna 58 Occasional (29-5%)
3 small earlobe 58 Frequent (79-30%)
4 horizontal nystagmus 58 Frequent (79-30%)
5 distichiasis 58 Very frequent (99-80%)
6 ectropion of lower eyelids 58 Frequent (79-30%)
7 sparse eyebrow 58 Very frequent (99-80%)
8 absent earlobe 58 Occasional (29-5%)
9 lop ear 58 Occasional (29-5%)
10 generalized hypertrichosis 58 Frequent (79-30%)
11 trichiasis 58 Very frequent (99-80%)
12 curved linear dimple below the lower lip 58 Very frequent (99-80%)
13 bitemporal forceps marks 58 Very frequent (99-80%)

Clinical features from OMIM:

614973

Drugs & Therapeutics for Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type

Search Clinical Trials , NIH Clinical Center for Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type

Genetic Tests for Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type

Anatomical Context for Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type

MalaCards organs/tissues related to Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type:

40
Skin

Publications for Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type

Articles related to Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type:

# Title Authors PMID Year
1
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. 56
23161670 2013
2
Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome). 56
19291768 2009
3
Setleis syndrome: three new cases and a review of the literature. 56
12210295 2002
4
Autosomal dominant inheritance in Setleis syndrome. 56
7645599 1995
5
Evidence for genetic homogeneity of Setleis' syndrome and focal facial dermal dysplasia. 56
8204474 1994
6
Setleis (bitemporal 'forceps marks') syndrome in a German family: evidence for autosomal dominant inheritance. 56
1342863 1992
7
Focal facial dermal dysplasia: two familial cases. 56
1894779 1991
8
CONGENITAL ECTODERMAL DYSPLASIA OF THE FACE. 56
14069095 1963
9
The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity. 61
28663233 2017

Variations for Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type

Expression for Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type

Search GEO for disease gene expression data for Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type.

Pathways for Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type

GO Terms for Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type

Sources for Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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