How is Char syndrome inherited?

Char syndrome follows an autosomal dominant inheritance pattern. This means inheriting just one copy of the altered gene from either parent can cause the condition.

How rare is Char syndrome?

Char syndrome is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Char syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Char syndrome?

Information about treatment is currently limited for this condition.

What complications can arise from the patent ductus arteriosus in Char syndrome?

In Char syndrome, the patent ductus arteriosus (PDA) can lead to complications if it remains open for too long. This heart condition can cause increased blood flow to the lungs, which may result in breathing problems or heart failure. It's important for doctors to monitor this condition closely to manage any potential issues.

How do the facial features associated with Char syndrome affect daily life?

The distinctive facial features of Char syndrome can impact daily life in various ways. These features may affect how others perceive and interact with a person, potentially leading to social challenges. Support from family and friends can help individuals navigate these situations and build confidence.

What is the life expectancy for someone with Char syndrome?

Currently, there is limited information about the life expectancy of individuals with Char syndrome. Since the condition can involve heart issues and other complications, ongoing medical care is important. Regular check-ups with healthcare providers can help manage symptoms and improve quality of life.

Are there any specialists that should be involved in the care of someone with Char syndrome?

Yes, individuals with Char syndrome may benefit from seeing several specialists. A cardiologist is important for monitoring heart health due to the patent ductus arteriosus. Additionally, a geneticist can provide insights into the genetic aspects of the condition, while other specialists may help with hand anomalies and overall development.

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Char syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Char syndrome

MONDO:0008209

Also known as:patent ductus arteriosus with facial dysmorphism and abnormal fifth digitsCHAR

Overview

Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.

GeneticsAutosomal dominant · TFAP2B (chr 6)

ResearchLimited published research (3 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Ptosis, Hypertelorism, Triangular mouth, and Patent ductus arteriosus and others; and common findings: Clinodactyly of the 5th finger, Short middle phalanx of the 5th finger, and Mesoaxial hand polydactyly. 37 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	8	Distal/middle symphalangism of 5th finger, Clinodactyly of the 5th finger, Short middle phalanx of the 5th finger

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

TFAP2B function has not been fully characterized.

Char syndrome is associated with mutations in the TFAP2B gene on chromosome 6.

GeneReviews

Clinical Guidance

Among the 16 different pathogenic variants in TFAP2B described in publications, seven are loss-of-function alleles and nine are missense changes. For the latter, eight of the nine alter residues in the DNA binding domain (basic domain; residues 223-301) and one is in the transactivation domain (residues 65-86).

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Formal clinical diagnostic criteria for Char syndrome have not been published.

Suggestive Findings

Char syndrome should be suspected in individuals with the following clinical and family history findings.

Clinical features

Typical facial features with depressed nasal bridge and broad flat nasal tip, widely spaced eyes, downslanted palpebral fissures, mild ptosis, short philtrum with prominent philtral ridges with an upward pointing vermilion border resulting in a triangular mouth, and thickened (patulous) everted lips

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Char syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Char syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with Char Syndrome

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Children with Char syndrome need pediatric attention during infancy and childhood. Table 6. Recommended Surveillance for Individuals with Char Syndrome

System/Concern

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for Char syndrome.

4 publications have been identified in PubMed for Char syndrome. Kisho has analyzed 3 by research type. Research spans Case Report / Case Series (67%) and Review / Meta-Analysis (33%).

Recent Publications

Linnenkamp BDW (2025). [PMID: 40176835](https://pubmed.ncbi.nlm.nih.gov/40176835/). *Mol Syndromol*. [Case Report / Case Series]
Zhao M (2024). [PMID: 38818565](https://pubmed.ncbi.nlm.nih.gov/38818565/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Review / Meta-Analysis]
Hu B (2024). [PMID: 39097275](https://pubmed.ncbi.nlm.nih.gov/39097275/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 6:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:169100

Orphanet

European rare disease database

Orphanet:46627

GARD

Genetic and Rare Diseases Info Center

GARD:1237

Questions for Your Care Team

→Should I pursue genetic testing for TFAP2B, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Char syndrome

Char syndrome is a rare condition that is primarily defined by three key features: patent ductus arteriosus (PDA), differences in facial structure, and hand anomalies. These aspects mean that people with this condition may have a heart issue where a blood vessel fails to close properly, unique facial characteristics, and abnormalities in their fifth digits or hand formation. This overview is based on trusted sources that describe the syndrome’s core clinical presentation. The condition has been referenced in multiple resources, highlighting its genetic component and distinct triad of physical signs. Information about the syndrome continues to be refined as more insights arise from ongoing research.

People with Char syndrome typically present with patent ductus arteriosus, a heart condition where an opening between blood vessels remains open after birth. In addition, there are distinctive facial features and hand anomalies, such as abnormalities in the fifth digits. These symptoms are important in identifying the syndrome.

Char syndrome is linked to changes in the TFAP2B gene. This gene plays a role in development, and mutations in this gene are associated with the features of the syndrome. However, the full details of the genetic and environmental contributions to the condition are still being studied. Associated genes include TFAP2B.

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GeneReviews

Clinical Guidance

Char syndrome is characterized by the triad of typical facial features , patent ductus arteriosus (PDA), and stereotypic hand anomalies . Table 2. Features of Char Syndrome

Feature	% of Personswith Feature	Comment
Facialdysmorphia	86%	Higher prevalence in those w/missense variants (98%) vs loss-of-function variants (59%) (See .)
PDA	68%	—
Other congenitalheart defects	6%	—
Hand anomalies	57%	Higher prevalence in those w/missense variants altering the basic domain (residues 223-301; 79%) than in the transactivation domain (residues 65-86; 0%) (See .) PDA.

Source: GeneReviews — "Char Syndrome"

GeneReviews

Differential Diagnosis

Facial features. The typical facial features associated with Char syndrome are usually striking and not often confused with facial features observed in other disorders. The facial profile is similar to that of maxillonasal dysplasia (Binder syndrome; OMIM 155050). Hand anomalies. The hand anomalies associated with Char syndrome can be as minimal as fifth finger clinodactyly, which can be a normal finding and overlaps with numerous other syndromes. Patent ductus arteriosus (PDA) constitutes about 10% of all congenital heart disease. Isolated PDA (in the absence of other congenital heart defects) occurs in about one in 2,000 full-term infants. PDA is considerably more common in premature infants. It is one of the cardiac lesions observed in congenital rubella syndrome and may occur in autosomal dominant and recessive disorders that are nonsyndromic . Note: Screening of a group of individuals with isolated PDA rarely revealed the presence of TFAP2B pathogenic variants . Heart-hand syndromes. See . Table 3. Genes Associated with Heart-Hand Syndromes in the Differential Diagnosis of Char Syndrome

Gene(s)	Disorder	MOI	Congenital Heart Defects	Hand Abnormalities	Other Clinical Characteristics
Rubinstein-Taybi syndrome	AD	Present in ~1/3 of affected persons; CHDs incl ASD, VSD, PDA, CoA.	Broad often angulated thumbs halluces	Distinctive facial features, short stature, moderate-to-severe ID DVL1 DVL3 WNT5A	—
Autosomal dominant Robinow syndrome	AD	Present in 25% of affected persons; CHDs incl pulmonary valve stenosis/atresia, ASD, VSD, CoA.	Brachydactyly	Skeletal dysplasia; short stature; dysmorphic facial features resembling a fetal face EVC EVC2	—
Ellis-van Creveld syndrome	AR	Present in 50-60% of affected persons; CHDs incl common atrium, mitral tricuspid valve defects, PDA, VSD, hypoplastic left heart syndrome.	Postaxial polydactyly	Short stature w/shortening of the long bones; hidrotic ectodermal dysplasia of the nails, hair, teeth GPC3 GPC4	—
Simpson-Golabi-Behmel syndrome type 1	XL	CHDs variable; septal defects common	—	—	—
Pulmonic stenosis, CoA, transposition of the great vessels, PDA or patent foramen ovale reported	Hand anomalies incl large hands postaxial polydactyly.	Pre- postnatal macrosomia; distinctive facies; variable visceral, skeletal, neurodevelopmental abnormalities RBM8A	—	—	—
Thrombocytopenia-absent radius syndrome	AR	Present in 15%-22% of affected persons (usually septal defects rather than complex cardiac malformations)	Thumbs of near-normal size but somewhat wider flatter than usual; they are also held in flexion against the palm, tend to have limited function.	—	—

Source: GeneReviews — "Char Syndrome"

Kisho

Char syndrome

Overview

Clinical Presentation

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Penetrance

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Char syndrome

Overview

Clinical Presentation

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Char syndrome?

What are the symptoms of Char syndrome?

What causes Char syndrome?

How is Char syndrome inherited?

How rare is Char syndrome?

How is Char syndrome diagnosed?

Are there treatments for Char syndrome?

What complications can arise from the patent ductus arteriosus in Char syndrome?

How do the facial features associated with Char syndrome affect daily life?

What is the life expectancy for someone with Char syndrome?

Are there any specialists that should be involved in the care of someone with Char syndrome?

Clinical Guidance

Explore clinical features

Penetrance

Differential Diagnosis

Therapies Under Investigation

Clinical Trials