focal facial dermal dysplasia type IV
Findings
No curated finding names focal facial dermal dysplasia type IV yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions.
Definition from the Mondo Disease Ontology (MONDO:0013997), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal blistering of the skinHPOHP:0008066
- Very frequent (80% to 99% of cases)
- Abnormal buccal mucosa morphologyHPOHP:3000019
- Very frequent (80% to 99% of cases)
- Abnormal cheek morphologyHPOHP:0004426
- Very frequent (80% to 99% of cases)
- Abnormal epidermal morphologyHPOHP:0011124
- Frequent (30% to 79% of cases)
- Abnormal mast cell morphologyHPOHP:0100494
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
Show the remaining 6
- Intracranial hemorrhageHPOHP:0002170
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- Frequent (30% to 79% of cases)
- NevusHPOHP:0003764
- Frequent (30% to 79% of cases)
- ScarringHPOHP:0100699
- Frequent (30% to 79% of cases)
- Short chinHPOHP:0000331
- Frequent (30% to 79% of cases)
- Bitemporal forceps marksHPOHP:0011336
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CYP26C1HGNC:20577
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2017
Where it sits
- A kind of
Other names
5 names
Resolves to: focal facial dermal dysplasia type IV
- Also called
- FFDD type IVFFDD4focal facial dermal dysplasia 4focal Facial dermal dysplasia type 4focal facial preauricular dysplasia