focal facial dermal dysplasia type II
MONDO:0013996Mondo
Findings
No curated finding names focal facial dermal dysplasia type II yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities.
Definition from the Mondo Disease Ontology (MONDO:0013996), read 2026-09-29. CC BY 4.0.
Features
13 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
- Very frequent (80% to 99% of cases)
- Curved linear dimple below the lower lipHPOHP:0002055
- Very frequent (80% to 99% of cases)
- DistichiasisHPOHP:0009743
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- Very frequent (80% to 99% of cases)
- Sparse eyebrowHPOHP:0045075
- Very frequent (80% to 99% of cases)
- TrichiasisHPOHP:0001128
- Very frequent (80% to 99% of cases)
- Ectropion of lower eyelidsHPOHP:0007651
- Frequent (30% to 79% of cases)
- Generalized hypertrichosisHPOHP:0004554
- Frequent (30% to 79% of cases)
- Horizontal nystagmusHPOHP:0000666
- Frequent (30% to 79% of cases)
- Small earlobeHPOHP:0000385
- Frequent (30% to 79% of cases)
- Abnormal pinna morphologyHPOHP:0000377
- Occasional (5% to 29% of cases)
- Absent earlobeHPOHP:0000387
- Occasional (5% to 29% of cases)
Show the remaining 1
- Lop earHPOHP:0000394
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
3 names
Resolves to: focal facial dermal dysplasia type II
- Also called
- FFDD type IIFFDD2focal facial dermal dysplasia 2, Brauer-Setleis type