MCID: FCL046
MIFTS: 23

Focal Facial Dermal Dysplasia 4

Categories: Genetic diseases, Skin diseases, Fetal diseases, Rare 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 59 75 13 6 73
Ffdd4 57 59 75
Focal Facial Dermal Dysplasia Type Iv 59 75
Ffdd Type Iv 59 75
Dysplasia, Dermal, Facial, Focal, Type 4 40
Focal Facial Preauricular Dysplasia 59

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive


HPO:

32
focal facial dermal dysplasia 4:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Focal Facial Dermal Dysplasia 4

UniProtKB/Swiss-Prot : 75 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). Affiliated tissues include skin, and related phenotypes are microcephaly and short chin

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)

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 10.0

Symptoms & Phenotypes for Focal Facial Dermal Dysplasia 4

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Focal Facial Dermal Dysplasia 4:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
2 short chin 59 32 frequent (33%) Frequent (79-30%) HP:0000331
3 hemangioma 59 32 frequent (33%) Frequent (79-30%) HP:0001028
4 hemiparesis 59 32 frequent (33%) Frequent (79-30%) HP:0001269
5 intracranial hemorrhage 59 32 frequent (33%) Frequent (79-30%) HP:0002170
6 nevus 59 32 frequent (33%) Frequent (79-30%) HP:0003764
7 focal seizures 59 32 frequent (33%) Frequent (79-30%) HP:0007359
8 abnormality of epidermal morphology 59 32 frequent (33%) Frequent (79-30%) HP:0011124
9 fragmented elastic fibers in the dermis 59 32 frequent (33%) Frequent (79-30%) HP:0025167
10 scarring 59 32 frequent (33%) Frequent (79-30%) HP:0100699
11 abnormal blistering of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008066
12 abnormality of buccal mucosa 59 32 hallmark (90%) Very frequent (99-80%) HP:3000019
13 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
14 cleft upper lip 59 32 frequent (33%) Frequent (79-30%) HP:0000204
15 hydrocephalus 59 32 frequent (33%) Frequent (79-30%) HP:0000238
16 abnormality of mast cells 59 Frequent (79-30%)
17 abnormality of the cheek 59 Very frequent (99-80%)
18 abnormal mast cell morphology 32 frequent (33%) HP:0100494

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

Anatomical Context for Focal Facial Dermal Dysplasia 4

MalaCards organs/tissues related to Focal Facial Dermal Dysplasia 4:

41
Skin

Publications for Focal Facial Dermal Dysplasia 4

Articles related to Focal Facial Dermal Dysplasia 4:

# Title Authors Year
1
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. ( 23161670 )
2013

Variations for Focal Facial Dermal Dysplasia 4

ClinVar genetic disease variations for Focal Facial Dermal Dysplasia 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP26C1 CYP26C1, 7-BP DUP, NT844 duplication Pathogenic

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 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
Content
Loading form....