KEGG   DISEASE: Char syndrome
Entry
H00555                      Disease                                
Name
Char syndrome
Description
Char syndrome is a rare autosomal dominant disorder characterized by a combination of three major features: typical facial features, patent ductus arteriosus, and hypoplasia of the middle phalanges of the fifth digits.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H00555  Char syndrome
Gene
TFAP2B [HSA:7021] [KO:K09176]
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q87.8
MeSH: C566815
OMIM: 169100
Reference
  Authors
Richards AA, Garg V
  Title
Genetics of congenital heart disease.
  Journal
Curr Cardiol Rev 6:91-7 (2010)
DOI:10.2174/157340310791162703
Reference
  Authors
Satoda M, Zhao F, Diaz GA, Burn J, Goodship J, Davidson HR, Pierpont ME, Gelb BD
  Title
Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.
  Journal
Nat Genet 25:42-6 (2000)
DOI:10.1038/75578
Reference
  Authors
Gelb BD
  Title
Char Syndrome
  Journal
GeneReviews (1993)
Reference
PMID:1342853
  Authors
Temple IK
  Title
Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies).
  Journal
Clin Dysmorphol 1:17-21 (1992)
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