MCID: FCL023
MIFTS: 22

Focal Facial Dermal Dysplasia

Categories: Rare diseases, Skin diseases, Fetal diseases, Genetic diseases

Aliases & Classifications for Focal Facial Dermal Dysplasia

MalaCards integrated aliases for Focal Facial Dermal Dysplasia:

Name: Focal Facial Dermal Dysplasia 53 59 37 73
Hereditary Symmetrical Aplastic Nevi of Temples 53
Bitemporal Aplasia Cutis Congenita 53
Dysplasia, Dermal, Facial, Focal 40
Focal Dermal Hypoplasia 73
Brauer Syndrome 53
Ffdd, Type 1 53
Ffdd 59

Characteristics:

Orphanet epidemiological data:

59
focal facial dermal dysplasia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA398166
UMLS via Orphanet 74 C2936827
KEGG 37 H02083
UMLS 73 C2936827

Summaries for Focal Facial Dermal Dysplasia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 79133Disease definitionFocal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD; see this term) characterized by congenital bitemporal cutis aplasia.EpidemiologyFFDD1 has been reported in over 80 cases including three large multi-generational families (German, English, Australian) and several sporadic cases.Clinical descriptionThe bitemporal, rarely unilateral, hypoplastic scar-like lesions in FFDD, resembling forceps marks, are usually the only manifestations of FFDD1. Other very rarely described and usually mild facial dysmorphic features may comprise a low frontal hairline, sparse hair, sparse lateral eyebrows, distichiasis (upper lashes), flattened nasal tip, bulbous nasal tip, prominent upper lip, skin dimples lateral to lips, horizontal chin furrow, vertical chin cleft, and linear grooves on the forehead. Most patients usually have normal intelligence.EtiologyEtiology is unknown.Diagnostic methodsClinical examination reveals bitemporal scars.Differential diagnosisDifferential diagnosis includes focal facial dermal dysplasia type 2 and 3 (see these terms).Antenatal diagnosisPrenatal diagnosis is not availableGenetic counselingFFDD1 is transmitted in an autosomal dominant manner with full penetrance.Management and treatmentNo specific treatment exists. There is limited experience with plastic surgery for the facial scar-like lesions.PrognosisAffected individuals have a normal intelligence and life span.Visit the Orphanet disease page for more resources.

MalaCards based summary : Focal Facial Dermal Dysplasia, also known as hereditary symmetrical aplastic nevi of temples, is related to aplasia cutis congenita and focal facial dermal dysplasia 3, setleis type. An important gene associated with Focal Facial Dermal Dysplasia is TWIST2 (Twist Family BHLH Transcription Factor 2). Affiliated tissues include skin, and related phenotypes are craniofacial and limbs/digits/tail

Wikipedia : 76 Focal facial dermal dysplasia (FFDD) is a rare genetically heterogeneous group of disorders that are... more...

Related Diseases for Focal Facial Dermal Dysplasia

Diseases in the Focal Facial Dermal Dysplasia family:

Focal Facial Dermal Dysplasia 4

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

# Related Disease Score Top Affiliating Genes
1 aplasia cutis congenita 28.9 CYP26C1 TWIST2
2 focal facial dermal dysplasia 3, setleis type 12.7
3 focal facial dermal dysplasia 4 12.7
4 focal facial dermal dysplasia 2, brauer-setleis type 12.5
5 focal facial dermal dysplasia 1, brauer type 12.4
6 aplasia cutis congenita, nonsyndromic 10.0
7 barber-say syndrome 9.3 CYP26C1 TWIST2
8 ablepharon-macrostomia syndrome 9.0 CYP26C1 TWIST2

Graphical network of the top 20 diseases related to Focal Facial Dermal Dysplasia:



Diseases related to Focal Facial Dermal Dysplasia

Symptoms & Phenotypes for Focal Facial Dermal Dysplasia

MGI Mouse Phenotypes related to Focal Facial Dermal Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 8.96 CYP26C1 TWIST2
2 limbs/digits/tail MP:0005371 8.62 CYP26C1 TWIST2

Drugs & Therapeutics for Focal Facial Dermal Dysplasia

Search Clinical Trials , NIH Clinical Center for Focal Facial Dermal Dysplasia

Genetic Tests for Focal Facial Dermal Dysplasia

Anatomical Context for Focal Facial Dermal Dysplasia

MalaCards organs/tissues related to Focal Facial Dermal Dysplasia:

41
Skin

Publications for Focal Facial Dermal Dysplasia

Articles related to Focal Facial Dermal Dysplasia:

(show all 14)
# Title Authors Year
1
Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients. ( 29263414 )
2017
2
Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III). ( 25728400 )
2015
3
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. ( 23161670 )
2013
4
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. ( 21931173 )
2011
5
Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome). ( 19291768 )
2009
6
Focal facial dermal dysplasia or aplasia cutis congenita: a case with a hair collar. ( 11309038 )
2001
7
Focal facial dermal dysplasia with a hair collar. ( 9990404 )
1998
8
Focal facial dermal dysplasia: report of a case with associated cardiac defects. ( 8915156 )
1996
9
Evidence for genetic homogeneity of Setleis' syndrome and focal facial dermal dysplasia. ( 8204474 )
1994
10
Focal facial dermal dysplasia: two familial cases. ( 1894779 )
1991
11
Focal facial dermal dysplasia: bitemporal lesions resembling aplasia cutis congenita. ( 3372784 )
1988
12
Familial focal facial dermal dysplasia. ( 4697690 )
1973
13
Familial focal facial dermal dysplasia. ( 5173318 )
1971
14
Preliminary report on familial focal facial dermal dysplasia. ( 5118098 )
1971

Variations for Focal Facial Dermal Dysplasia

Expression for Focal Facial Dermal Dysplasia

Search GEO for disease gene expression data for Focal Facial Dermal Dysplasia.

Pathways for Focal Facial Dermal Dysplasia

GO Terms for Focal Facial Dermal Dysplasia

Sources for Focal Facial Dermal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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