FFDD
MCID: FCL023
MIFTS: 25

Focal Facial Dermal Dysplasia (FFDD)

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

Aliases & Classifications for Focal Facial Dermal Dysplasia

MalaCards integrated aliases for Focal Facial Dermal Dysplasia:

Name: Focal Facial Dermal Dysplasia 20 58 36 71
Hereditary Symmetrical Aplastic Nevi of Temples 20
Bitemporal Aplasia Cutis Congenita 20
Dysplasia, Dermal, Facial, Focal 39
Focal Dermal Hypoplasia 71
Brauer Syndrome 20
Ffdd, Type 1 20
Ffdd 58

Characteristics:

Orphanet epidemiological data:

58
focal facial dermal dysplasia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

KEGG 36 H02083
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 72 C2936827
Orphanet 58 ORPHA398166
UMLS 71 C0016395 C2936827

Summaries for Focal Facial Dermal Dysplasia

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 79133DefinitionFocal 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 focal facial dermal dysplasia 3, setleis type and focal facial dermal dysplasia 4. An important gene associated with Focal Facial Dermal Dysplasia is TWIST2 (Twist Family BHLH Transcription Factor 2). Related phenotypes are Decreased viability and Decreased viability

KEGG : 36 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.

Wikipedia : 74 Focal facial dermal dysplasia is a rare genetically heterogeneous group of disorders that are... more...

Related Diseases for Focal Facial Dermal Dysplasia

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

GenomeRNAi Phenotypes related to Focal Facial Dermal Dysplasia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00381-A-1 8.8 CYP26C1 TWIST2
2 Decreased viability GR00402-S-2 8.8 TWIST2

MGI Mouse Phenotypes related to Focal Facial Dermal Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 8.62 CYP26C1 TWIST2

Drugs & Therapeutics for Focal Facial Dermal Dysplasia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Growth Arrest in Focal Dermal Hypoplasia Completed NCT02463656
2 Pathogenesis of Focal Dermal Hypoplasia or Goltz Syndrome and Related Disorders Active, not recruiting NCT00691223

Search NIH Clinical Center for Focal Facial Dermal Dysplasia

Genetic Tests for Focal Facial Dermal Dysplasia

Anatomical Context for Focal Facial Dermal Dysplasia

Publications for Focal Facial Dermal Dysplasia

Articles related to Focal Facial Dermal Dysplasia:

(show all 24)
# Title Authors PMID Year
1
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. 61 6
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. 6
21931173 2011
3
Homozygous nonsense mutations in TWIST2 cause Setleis syndrome. 6
20691403 2010
4
Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distribution. 6
16530710 2006
5
Setleis syndrome: autosomal recessive or autosomal dominant inheritance? 6
8818454 1996
6
CONGENITAL ECTODERMAL DYSPLASIA OF THE FACE. 6
14069095 1963
7
Focal Facial Dermal Dysplasia Type 4. 61
32832475 2020
8
A case of focal facial dermal dysplasia type 4. 61
30561078 2019
9
Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients. 61
29263414 2018
10
Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance. 61
26311541 2015
11
Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III). 61
25728400 2015
12
Setleis syndrome: genetic and clinical findings in a new case with epilepsy. 61
24486222 2014
13
Twist1- and Twist2-haploinsufficiency results in reduced bone formation. 61
24971743 2014
14
Focal preauricular dermal dysplasia in a newborn. 61
23106109 2013
15
Autosomal dominant inheritance in a large family with focal facial dermal dysplasia (Brauer-Setleis syndrome). 61
19291768 2009
16
Focal facial dermal dysplasia or aplasia cutis congenita: a case with a hair collar. 61
11309038 2001
17
Focal facial dermal dysplasia with a hair collar. 61
9990404 1998
18
Focal facial dermal dysplasia: report of a case with associated cardiac defects. 61
8915156 1996
19
Evidence for genetic homogeneity of Setleis' syndrome and focal facial dermal dysplasia. 61
8204474 1994
20
Focal facial dermal dysplasia: two familial cases. 61
1894779 1991
21
Focal facial dermal dysplasia: bitemporal lesions resembling aplasia cutis congenita. 61
3372784 1988
22
Familial focal facial dermal dysplasia. 61
4697690 1973
23
Preliminary report on familial focal facial dermal dysplasia. 61
5118098 1971
24
Familial focal facial dermal dysplasia. 61
5173318 1971

Variations for Focal Facial Dermal Dysplasia

ClinVar genetic disease variations for Focal Facial Dermal Dysplasia:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYP26C1 CYP26C1, 7-BP DUP, NT844 Duplication Pathogenic 39843
2 TWIST2 NM_001271893.4(TWIST2):c.355C>T (p.Gln119Ter) SNV Pathogenic 30678 rs387906973 2:239757211-239757211 2:238848570-238848570
3 TWIST2 NM_001271893.4(TWIST2):c.193C>T (p.Gln65Ter) SNV Pathogenic 30679 rs387906974 2:239757049-239757049 2:238848408-238848408
4 TWIST2 NM_001271893.4(TWIST2):c.168del (p.Ser57fs) Deletion Pathogenic 39840 rs1574742341 2:239757021-239757021 2:238848380-238848380

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 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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