focal facial dermal dysplasia type I
MONDO:0007627Mondo
Findings
No curated finding names focal facial dermal dysplasia type I yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia.
Definition from the Mondo Disease Ontology (MONDO:0007627), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
19 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 facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Absent eyelashesHPOHP:0000561
- Very frequent (80% to 99% of cases)
- Aplasia cutis congenitaHPOHP:0001057
- Very frequent (80% to 99% of cases)
- Atrophic scarsHPOHP:0001075
- Very frequent (80% to 99% of cases)
- DistichiasisHPOHP:0009743
- Very frequent (80% to 99% of cases)
- Low anterior hairlineHPOHP:0000294
- Very frequent (80% to 99% of cases)
- Skin dimple
Show the remaining 7
- Depressed nasal tipHPOHP:0000437
- Frequent (30% to 79% of cases)
- Downturned corners of mouthHPOHP:0002714
- Frequent (30% to 79% of cases)
- Pointed chinHPOHP:0000307
- Frequent (30% to 79% of cases)
- Sparse lateral eyebrowHPOHP:0005338
- Frequent (30% to 79% of cases)
- Thick upper lip vermilionHPOHP:0000215
- Frequent (30% to 79% of cases)
- Bitemporal forceps marksHPOHP:0011336
Where it sits
- A kind of
Other names
6 names
Resolves to: focal facial dermal dysplasia type I
- Also called
- bitemporal aplasia cutis congenitaBrauer syndromeFFDD type IFFDD1focal facial dermal dysplasia 1, Brauer typefocal facial dermal dysplasia type 1