focal facial dermal dysplasia type III
Findings
No curated finding names focal facial dermal dysplasia type III yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis.
Definition from the Mondo Disease Ontology (MONDO:0009203), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
32 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.
- Bitemporal forceps marksHPOHP:0011336
- 23 of 23 reported patients · Congenital onset
- Periorbital fullnessHPOHP:0000629
- 23 of 23 reported patients
- Thick upper lip vermilionHPOHP:0000215
- 21 of 23 reported patients
- DistichiasisHPOHP:0009743
- 19 of 21 reported patients
- Frequent (30% to 79% of cases)
- Bulbous noseHPOHP:0000414
- 17 of 19 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 18 of 21 reported patients
Show the remaining 20
- Downturned corners of mouthHPOHP:0002714
- Very frequent (80% to 99% of cases)
- Prematurely aged appearanceHPOHP:0007495
- Very frequent (80% to 99% of cases)
- Redundant skinHPOHP:0001582
- Very frequent (80% to 99% of cases)
- Sparse hairHPOHP:0008070
- Very frequent (80% to 99% of cases)
- Anal atresiaHPOHP:0002023
- 2 of 3 reported patients
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
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.
- TWIST2HGNC:20670
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: focal facial dermal dysplasia type III
- Also called
- FFDD type IIIFFDD3focal facial dermal dysplasia 3, Setleis typeSetleis syndrome