FFDD1
MCID: FCL067
MIFTS: 22

Focal Facial Dermal Dysplasia 1, Brauer Type (FFDD1)

Categories: Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Focal Facial Dermal Dysplasia 1, Brauer Type

MalaCards integrated aliases for Focal Facial Dermal Dysplasia 1, Brauer Type:

Name: Focal Facial Dermal Dysplasia 1, Brauer Type 56 58
Bitemporal Aplasia Cutis Congenita 56 58
Brauer Syndrome 56 58
Ffdd1 56 58
Hereditary Symmetrical Aplastic Nevi of Temples 56
Focal Facial Dermal Dysplasia Type I 58
Focal Facial Dermal Dysplasia Type 1 58
Focal Facial Dermal Dysplasia 71
Ffdd Type I 58

Characteristics:

Orphanet epidemiological data:

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

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
focal facial dermal dysplasia 1, brauer type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 136500
OMIM Phenotypic Series 56 PS136500
MESH via Orphanet 44 C536385 C537068
UMLS via Orphanet 72 C1744559 C2936827
Orphanet 58 ORPHA79133
MedGen 41 C2936827
UMLS 71 C2936827

Summaries for Focal Facial Dermal Dysplasia 1, Brauer 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. Cervantes-Barragan et al. (2011) proposed a classification of FFDD in which there are 4 subtypes. FFDD1 (Brauer syndrome) is characterized by temporal skin depressions that resemble 'forceps marks.' Other facial anomalies, comprising sparse lateral eyebrows, distichiasis, and a flattened nasal tip, are usually mild. Inheritance is autosomal dominant. FFFD2 (Brauer-Setleis syndrome; 614973) is 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. Inheritance is autosomal dominant. FFDD3 (Setleis syndrome; 227260) is characterized by the same facial features as FFDD2, but the inheritance is autosomal recessive. FFDD4 (614974) is characterized by isolated, preauricular skin lesions with autosomal dominant or recessive inheritance (summary by Slavotinek et al., 2013). (136500)

MalaCards based summary : Focal Facial Dermal Dysplasia 1, Brauer Type, also known as bitemporal aplasia cutis congenita, is related to focal facial dermal dysplasia and focal facial dermal dysplasia 3, setleis type. Affiliated tissues include skin, and related phenotypes are abnormal facial shape and absent eyelashes

Related Diseases for Focal Facial Dermal Dysplasia 1, Brauer Type

Diseases related to Focal Facial Dermal Dysplasia 1, Brauer Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 focal facial dermal dysplasia 11.5
2 focal facial dermal dysplasia 3, setleis type 11.4
3 palmoplantar keratoderma, punctate type ia 11.2
4 focal facial dermal dysplasia 2, brauer-setleis type 11.2
5 focal facial dermal dysplasia 4 11.2
6 aplasia cutis congenita, nonsyndromic 10.5

Graphical network of the top 20 diseases related to Focal Facial Dermal Dysplasia 1, Brauer Type:



Diseases related to Focal Facial Dermal Dysplasia 1, Brauer Type

Symptoms & Phenotypes for Focal Facial Dermal Dysplasia 1, Brauer Type

Human phenotypes related to Focal Facial Dermal Dysplasia 1, Brauer Type:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
2 absent eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000561
3 low anterior hairline 58 31 hallmark (90%) Very frequent (99-80%) HP:0000294
4 distichiasis 58 31 hallmark (90%) Very frequent (99-80%) HP:0009743
5 sparse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0008070
6 spotty hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0005585
7 aplasia cutis congenita 58 31 hallmark (90%) Very frequent (99-80%) HP:0001057
8 atrophic scars 58 31 hallmark (90%) Very frequent (99-80%) HP:0001075
9 spotty hypopigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0005590
10 vertical forehead creases 58 31 hallmark (90%) Very frequent (99-80%) HP:0011221
11 skin dimple 31 hallmark (90%) HP:0010781
12 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
13 bulbous nose 58 31 frequent (33%) Frequent (79-30%) HP:0000414
14 pointed chin 58 31 frequent (33%) Frequent (79-30%) HP:0000307
15 thick upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000215
16 sparse lateral eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0005338
17 depressed nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0000437
18 skin dimples 58 Very frequent (99-80%)
19 reduced subcutaneous adipose tissue 31 HP:0003758

Symptoms via clinical synopsis from OMIM:

56
Skin:
focal facial dermal dysplasia
wrinkling or puckering of skin at the temples
guttate areas of lateral aspects of chin and midforehead

Lab:
mesodermal dysplasia with nearly absent subcutaneous fat and atrophic corium

Clinical features from OMIM:

136500

Drugs & Therapeutics for Focal Facial Dermal Dysplasia 1, Brauer Type

Search Clinical Trials , NIH Clinical Center for Focal Facial Dermal Dysplasia 1, Brauer Type

Genetic Tests for Focal Facial Dermal Dysplasia 1, Brauer Type

Anatomical Context for Focal Facial Dermal Dysplasia 1, Brauer Type

MalaCards organs/tissues related to Focal Facial Dermal Dysplasia 1, Brauer Type:

40
Skin

Publications for Focal Facial Dermal Dysplasia 1, Brauer Type

Articles related to Focal Facial Dermal Dysplasia 1, Brauer Type:

# Title Authors PMID Year
1
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. 56
23161670 2013
2
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. 56
21931173 2011
3
The focal facial dermal dysplasias: report of a kindred and a proposed new classification. 56
1401310 1992
4
Focal facial dermal dysplasia: bitemporal lesions resembling aplasia cutis congenita. 56
3372784 1988
5
Familial focal facial dermal dysplasia. 56
4697690 1973
6
Familial focal facial dermal dysplasia. 56
5173318 1971
7
Congenital ectodermal dysplasia of the face. 56
5089944 1971
8
Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients. 61
29263414 2018
9
The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity. 61
28663233 2017

Variations for Focal Facial Dermal Dysplasia 1, Brauer Type

Expression for Focal Facial Dermal Dysplasia 1, Brauer Type

Search GEO for disease gene expression data for Focal Facial Dermal Dysplasia 1, Brauer Type.

Pathways for Focal Facial Dermal Dysplasia 1, Brauer Type

GO Terms for Focal Facial Dermal Dysplasia 1, Brauer Type

Sources for Focal Facial Dermal Dysplasia 1, Brauer 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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