FFDD4
MCID: FCL046
MIFTS: 26

Focal Facial Dermal Dysplasia 4 (FFDD4)

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

Aliases & Classifications for Focal Facial Dermal Dysplasia 4

MalaCards integrated aliases for Focal Facial Dermal Dysplasia 4:

Name: Focal Facial Dermal Dysplasia 4 57 58 72 29 13 6 70
Ffdd4 57 58 72
Focal Facial Dermal Dysplasia Type Iv 58 72
Ffdd Type Iv 58 72
Dysplasia, Dermal, Facial, Focal, Type 4 39
Focal Facial Preauricular Dysplasia 58

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
focal facial dermal dysplasia 4:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 614974
OMIM Phenotypic Series 57 PS136500
MeSH 44 D004476
ICD10 via Orphanet 33 Q82.8
Orphanet 58 ORPHA398189
UMLS 70 C3554246

Summaries for Focal Facial Dermal Dysplasia 4

UniProtKB/Swiss-Prot : 72 Focal facial dermal dysplasia 4: A form of focal facial dermal dysplasia, a group of developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. Skin defects occur at the sites of facial fusion during embryogenesis, with temporal lesions situated at the junction between the frontonasal and maxillary facial prominences, and preauricular lesions at the meeting point of the maxillary and mandibular prominences. The ectodermal lesions show consistent histologic abnormalities: atrophy and flattening of the epidermis, replacement of the dermis by loose connective tissue, reduced levels of fragmented elastic tissue and absence of the subcutaneous tissues and adnexal structures. FFDD4 is characterized by isolated, preauricular skin lesions.

MalaCards based summary : Focal Facial Dermal Dysplasia 4, also known as ffdd4, is related to focal facial dermal dysplasia 1, brauer type and focal facial dermal dysplasia. An important gene associated with Focal Facial Dermal Dysplasia 4 is CYP26C1 (Cytochrome P450 Family 26 Subfamily C Member 1). Related phenotypes are abnormal blistering of the skin and abnormality of buccal mucosa

OMIM® : 57 The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFDD4 is characterized by isolated, preauricular skin lesions (summary by Slavotinek et al., 2013). For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (136500). (614974) (Updated 05-Apr-2021)

Related Diseases for Focal Facial Dermal Dysplasia 4

Diseases in the Focal Facial Dermal Dysplasia family:

Focal Facial Dermal Dysplasia 4

Diseases related to Focal Facial Dermal Dysplasia 4 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 focal facial dermal dysplasia 1, brauer type 10.9
2 focal facial dermal dysplasia 10.9
3 focal facial dermal dysplasia 3, setleis type 10.2
4 focal facial dermal dysplasia 2, brauer-setleis type 10.2

Symptoms & Phenotypes for Focal Facial Dermal Dysplasia 4

Human phenotypes related to Focal Facial Dermal Dysplasia 4:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal blistering of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008066
2 abnormality of buccal mucosa 58 31 hallmark (90%) Very frequent (99-80%) HP:3000019
3 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
4 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
5 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
6 nevus 58 31 frequent (33%) Frequent (79-30%) HP:0003764
7 cleft upper lip 58 31 frequent (33%) Frequent (79-30%) HP:0000204
8 hemangioma 58 31 frequent (33%) Frequent (79-30%) HP:0001028
9 intracranial hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0002170
10 hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0001269
11 focal-onset seizure 58 31 frequent (33%) Frequent (79-30%) HP:0007359
12 scarring 58 31 frequent (33%) Frequent (79-30%) HP:0100699
13 short chin 58 31 frequent (33%) Frequent (79-30%) HP:0000331
14 abnormality of epidermal morphology 58 31 frequent (33%) Frequent (79-30%) HP:0011124
15 fragmented elastic fibers in the dermis 58 31 frequent (33%) Frequent (79-30%) HP:0025167
16 abnormal mast cell morphology 31 frequent (33%) HP:0100494
17 abnormality of the cheek 58 Very frequent (99-80%)
18 abnormality of mast cells 58 Frequent (79-30%)
19 bitemporal forceps marks 31 HP:0011336

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
vesicular lesions, congenital bilateral, between ear and corner of mouth

Head And Neck Mouth:
polypoid lesions of buccal mucosa, 1 to 2 cm in diameter (in some patients)

Skin Nails Hair Skin:
vesicular lesions, congenital bilateral, between ear and corner of mouth
hyperpigmented rim with long fine hairs encircling the lesions (in some patients)

Skin Nails Hair Skin Histology:
elastosis, nonreactive, deep and superficial

Clinical features from OMIM®:

614974 (Updated 05-Apr-2021)

Drugs & Therapeutics for Focal Facial Dermal Dysplasia 4

Search Clinical Trials , NIH Clinical Center for Focal Facial Dermal Dysplasia 4

Genetic Tests for Focal Facial Dermal Dysplasia 4

Genetic tests related to Focal Facial Dermal Dysplasia 4:

# Genetic test Affiliating Genes
1 Focal Facial Dermal Dysplasia 4 29 CYP26C1

Anatomical Context for Focal Facial Dermal Dysplasia 4

Publications for Focal Facial Dermal Dysplasia 4

Articles related to Focal Facial Dermal Dysplasia 4:

# Title Authors PMID Year
1
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. 57 6
23161670 2013
2
Focal preauricular dermal dysplasia: distinctive congenital lesions with a bilateral and symmetric distribution. 57 6
16530710 2006
3
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. 57
21931173 2011
4
The focal facial dermal dysplasias: report of a kindred and a proposed new classification. 57
1401310 1992
5
A case of focal facial dermal dysplasia type 4. 61
30561078 2019
6
Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patients. 61
29263414 2018
7
The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity. 61
28663233 2017

Variations for Focal Facial Dermal Dysplasia 4

ClinVar genetic disease variations for Focal Facial Dermal Dysplasia 4:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYP26C1 CYP26C1, 7-BP DUP, NT844 Duplication Pathogenic 39843 GRCh37:
GRCh38:
2 CYP26C1 NM_183374.3(CYP26C1):c.973G>T (p.Glu325Ter) SNV Pathogenic 997482 GRCh37: 10:94825824-94825824
GRCh38: 10:93066067-93066067
3 CYP26C1 NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) Duplication Pathogenic 496732 rs565866662 GRCh37: 10:94824276-94824277
GRCh38: 10:93064519-93064520

Expression for Focal Facial Dermal Dysplasia 4

Search GEO for disease gene expression data for Focal Facial Dermal Dysplasia 4.

Pathways for Focal Facial Dermal Dysplasia 4

GO Terms for Focal Facial Dermal Dysplasia 4

Sources for Focal Facial Dermal Dysplasia 4

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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