Char syndrome
MONDO:0008209Mondo
Findings
No curated finding names Char syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.
Definition from the Mondo Disease Ontology (MONDO:0008209), read 2026-09-29. CC BY 4.0.
Features
28 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.
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- Depressed nasal ridgeHPOHP:0000457
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
- Everted lower lip vermilionHPOHP:0000232
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Malar flatteningHPOHP:0000272
- Very frequent (80% to 99% of cases)
- Patent ductus arteriosusHPOHP:0001643
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- Very frequent (80% to 99% of cases)
- Short philtrumHPOHP:0000322
- Very frequent (80% to 99% of cases)
- Thick vermilion borderHPOHP:0012471
- Very frequent (80% to 99% of cases)
- Triangular mouthHPOHP:0000207
- Very frequent (80% to 99% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Frequent (30% to 79% of cases)
Show the remaining 16
- Mesoaxial hand polydactylyHPOHP:0006159
- Frequent (30% to 79% of cases)
- Short middle phalanx of the 5th fingerHPOHP:0004220
- Frequent (30% to 79% of cases)
- Agenesis of permanent teethHPOHP:0006349
- Occasional (5% to 29% of cases)
- Fifth finger symphalangismHPOHP:0004218
- Occasional (5% to 29% of cases)
- Global developmental delayHPOHP:0001263
- Occasional (5% to 29% of cases)
- Hand polydactylyHPOHP:0001161
- Occasional (5% to 29% of cases)
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.
- TFAP2BHGNC:11743
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: Char syndrome
- Also called
- patent ductus arteriosus with facial dysmorphism and abnormal fifth digits