KEGG   DISEASE: Branchiooculofacial syndrome
Entry
H00817                      Disease                                
Name
Branchiooculofacial syndrome
Description
Branchiooculofacial syndrome (BOFS) is an autosomal dominant condition characterized by branchial cleft sinus defects associated with rotated auricles with stenotic auditory canals and conductive hearing loss. Branchial skin lesions covering branchial remnants are noted. Ocular anomalies and characteristic facial appearance including cleft lip/cleft palate together constitute the disease.
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
    H00817  Branchiooculofacial syndrome
Gene
TFAP2A [HSA:7020] [KO:K09176]
Other DBs
ICD-11: LD2F.1Y
MeSH: D019280
OMIM: 113620
Reference
  Authors
Lin AE, Milunsky JM
  Title
Branchiooculofacial Syndrome
  Journal
GeneReviews (1993)
Reference
  Authors
Raveh E, Papsin BC, Forte V
  Title
Branchio-oculo-facial syndrome.
  Journal
Int J Pediatr Otorhinolaryngol 53:149-56 (2000)
DOI:10.1016/S0165-5876(00)00310-4
Reference
PMID:3321995
  Authors
Fujimoto A, Lipson M, Lacro RV, Shinno NW, Boelter WD, Jones KL, Wilson MG
  Title
New autosomal dominant branchio-oculo-facial syndrome.
  Journal
Am J Med Genet 27:943-51 (1987)
DOI:10.1002/ajmg.1320270422
LinkDB

» Japanese version

DBGET integrated database retrieval system