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Focal facial dermal dysplasia type IV(FFDD4)

MedGen UID:
767160
•Concept ID:
C3554246
•
Disease or Syndrome
Synonym: Focal facial dermal dysplasia 4
SNOMED CT: FFDD type 4 - focal facial dermal dysplasia type 4 (789161001); Focal facial preauricular dysplasia (789161001); Focal facial dermal dysplasia type IV (789161001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): CYP26C1 (10q23.33)
 
Monarch Initiative: MONDO:0013997
OMIM®: 614974
Orphanet: ORPHA398189

Definition

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). [from OMIM]

Clinical features

From HPO
Bitemporal forceps marks
MedGen UID:
893154
•Concept ID:
C4023409
•
Finding
Bilateral temporal scarlike defects, which are said to resemble forceps marks.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFocal facial dermal dysplasia type IV
Follow this link to review classifications for Focal facial dermal dysplasia type IV in Orphanet.

Recent clinical studies

Prognosis

Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.
Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, Morren MA, Devriendt K, Kwok PY, Petkovich M, Desnick RJ
Hum Mol Genet 2013 Feb 15;22(4):696-703. Epub 2012 Nov 16 doi: 10.1093/hmg/dds477. PMID: 23161670Free PMC Article

Clinical prediction guides

Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.
Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, Morren MA, Devriendt K, Kwok PY, Petkovich M, Desnick RJ
Hum Mol Genet 2013 Feb 15;22(4):696-703. Epub 2012 Nov 16 doi: 10.1093/hmg/dds477. PMID: 23161670Free PMC Article

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
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    • PubMed (OMIM)
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