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patent ductus arteriosus 2 (PDA2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

patent ductus arteriosus 2

MONDO:0014878

Also known as:PDA2patent ductus arteriosus 2; PDA2patent ductus arteriosus type 2

Overview

GeneticsAutosomal dominant · TFAP2B (chr 6)

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 always present findings: Patent ductus arteriosus. 2 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	1	Clinodactyly 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.

Patent ductus arteriosus 2 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 patent ductus arteriosus 2. 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 patent ductus arteriosus 2.

57 publications have been identified in PubMed for patent ductus arteriosus 2. Research spans Clinical Trial Publication (32%), Case Report / Case Series (23%), and Epidemiology / Natural History (21%).

Research Type	Count	% of Total
Clinical study results	18	32%

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 6:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617035

GARD

Genetic and Rare Diseases Info Center

GARD:18489

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?

← Back to All Diseases

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

patent ductus arteriosus 2

Overview

Clinical Presentation

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Penetrance

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Recent Publications

patent ductus arteriosus 2

Overview

Clinical Presentation

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Penetrance

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

Recent Publications