focal facial dermal dysplasia type II
diseaseOn this page
Also known as FFDD type IIFFDD2focal facial dermal dysplasia 2, Brauer-Setleis type
Summary
focal facial dermal dysplasia type II (MONDO:0013996) is a disease. A subtype of focal facial dermal dysplasia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 13
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 22 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
13 HPO clinical features (Orphanet curated; top 13 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000369 | Low-set ears | Very frequent (80-99%) |
| HP:0001128 | Trichiasis | Very frequent (80-99%) |
| HP:0002055 | Curved linear dimple below the lower lip | Very frequent (80-99%) |
| HP:0009743 | Distichiasis | Very frequent (80-99%) |
| HP:0011336 | Bitemporal forceps marks | Very frequent (80-99%) |
| HP:0045075 | Sparse eyebrow | Very frequent (80-99%) |
| HP:0000385 | Small earlobe | Frequent (30-79%) |
| HP:0000666 | Horizontal nystagmus | Frequent (30-79%) |
| HP:0004554 | Generalized hypertrichosis | Frequent (30-79%) |
| HP:0007651 | Ectropion of lower eyelids | Frequent (30-79%) |
| HP:0000377 | Abnormal pinna morphology | Occasional (5-29%) |
| HP:0000387 | Absent earlobe | Occasional (5-29%) |
| HP:0000394 | Lop ear | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | focal facial dermal dysplasia type II |
| Mondo ID | MONDO:0013996 |
| OMIM | 614973 |
| Orphanet | 398173 |
| UMLS | C3554245 |
| MedGen | 767159 |
| GARD | 0017649 |
| NORD | 1704 |
| Is cancer (heuristic) | no |
Also known as: FFDD type II · FFDD2 · focal facial dermal dysplasia 2, Brauer-Setleis type
Disease family
This is a subtype of focal facial dermal dysplasia. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › syndromic disease › ectodermal dysplasia syndrome › focal facial dermal dysplasia › focal facial dermal dysplasia type II
Related subtypes (3): focal facial dermal dysplasia type I, focal facial dermal dysplasia type III, focal facial dermal dysplasia type IV
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.