Cardiology · Cardiology / Genetic cardiology
Char syndrome
also: Patent ductus arteriosus with facial and hand anomalies
Dominant syndrome with patent ductus arteriosus, facial dysmorphism and fifth finger clinodactyly.
- Specialty
- Cardiology
- Subspecialty
- Cardiology / Genetic cardiology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, infancy
- Gene(s) involved
- TFAP2B
- Alternative names & eponyms
- Patent ductus arteriosus with facial and hand anomalies
Etiology & mechanism
TFAP2B variants.
Gene(s) involved (1)
Symptoms & signs (5)
In plain terms, someone with Char syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
1 shared
Blepharophimosis–ptosis–epicanthus inversus syndrome
ptosis
1 shared
Cantú syndrome
patent ductus arteriosus
1 shared
Congenital myasthenic syndrome
ptosis
1 shared
Congenital myasthenic syndrome, acetylcholine receptor deficiency
ptosis
1 shared
Congenital myasthenic syndrome, slow-channel type
ptosis
1 shared
Horner syndrome
ptosis
1 shared
Lymphedema–distichiasis syndrome
ptosis
1 shared
Miller Fisher syndrome
ptosis
1 shared
Noonan syndrome
ptosis
1 shared
Orbital apex syndrome
ptosis
Shares genes with
None.
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