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Branchio-Oculo-Facial Syndrome



  • The authors present the case of an infant with an unconventional presentation of BOFS to highlight key distinguishing features of this disorder, and to emphasize the importance of a multidisciplinary approach in the diagnosis and management of these patients[ncbi.nlm.nih.gov]
Saddle Nose
  • Rhinoscleroma, 42, 54, 65 Rhinosporidiosis, 42, 55 Rhinosporidium seeberi, 55 Rodent ulcer, 70 Rosacea, 6, 8, 49, 79, 130 Rosai-Dorfman disease, 33 Rothmund-Thomson syndrome, 6–7, 63, 80, 136–137 Rubinstein-Taybi syndrome, 64 Rudimentary ear, 138 S Saddle[otolaryngologygr.blogspot.com]
Retinal Pigmentation
  • In this case, the ophthalmic manifestations included lacrimal sac fistula, orbital dermoid cyst, iris pigment epithelial cyst, and combined hamartoma of the retina and retinal pigment epithelium.[experts.umich.edu]
  • pigmented epithelium [ 22, 23 ].[molvis.org]
  • Ocular findings such as “salt-and-pepper” appearence of retinal pigmention, cataract, sensorineural deafness and mental retardation are other features of this syndrome which causes a short life span.[otolaryngologygr.blogspot.com]
Small Palpebral Fissures
  • On clinical examination, he presented growth retardation, epicanthal folds, small palpebral fissures, telecanthus, broadened nasal bridge, lip pseudocleft, micrognathia, dysplastic and posteriorly-rotated ears, branchial clefts, short and webbed neck,[ncbi.nlm.nih.gov]
Panic Attacks
  • One patient presented brainstem immaturity with dysregulation of sympathetic and parasympathetic systems, which have so far not been described in the literature and were associated with anxiety, panic attacks, and tiredness.[ncbi.nlm.nih.gov]
Broad Nasal Bridge
  • nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.[orpha.net]
  • His obvious symptoms were holes in both sides of the neck (he had surgery at 6 months of age), broad nasal bridge, nasal duct obstruction, pseudocleft of the upper lip, submucos cleft palate, microphthalmia, and squint eye (more dropping in right eye)[jmums.mazums.ac.ir]
  • Craniofacial defects include pseudo-cleft/cleft lip, broad nasal bridge, and high forehead. Pseudo-cleft is a particularly helpful clinical feature that is highly specific to this syndrome.[molvis.org]
Chin Dimples
  • Other anomalies, in addition to the familiar cardinal features of BOFS, included facial nerve weakness (n 6), chin dimple or cleft of the lower lip (n 4), upper labial pits (n 6), minor digital anomalies (n 12), renal anomalies (n 14), and ectopic thymus[ncbi.nlm.nih.gov]
Protruding Lips
  • lips - Retinoschisis / retinal / chorioretinal coloboma - Skin hypoplasia / aplasia / atrophy Frequent - Abnormal cry / voice / phonation disorder / nasal speech - Anodontia / oligodontia / hypodontia - Broad nose / nasal bridge - Coloboma of iris -[csbg.cnb.csic.es]


  • Management and treatment Management is symptomatic and includes combined treatments for hearing impairment and for skin lesions. Prognosis Prognosis is function of the severity of associated manifestations.[orpha.net]
  • Treatment Treatment Options: Treatment requires a multidisciplinary approach with oculoplastic, ophthalmic, and ENT surgeons. Physical, speech, hearing, and learning specialists can be helpful.[disorders.eyes.arizona.edu]


  • Prognosis Prognosis is function of the severity of associated manifestations. The documents contained in this web site are presented for information purposes only.[orpha.net]


  • Etiology BOFS is caused by mutations involving the gene TFAP2A (transcription factor AP-2 alpha; 6p24). Diagnostic methods Diagnosis is clinical and may be confirmed by DNA analysis.[orpha.net]
  • Elsevier Health Sciences , 18 ago. 2013 - 979 páginas Smith’s Recognizable Patterns of Human Malformation has long been known as the source to consult on multiple malformation syndromes of environmental and genetic etiology as well as recognizable disorders[books.google.es]
  • Both anophthalmia and microphthalmia may occur in isolation or as part of a syndrome as in one-third of cases. (1) Anophthalmia/ microphthalmia have a complex etiology with chromosomal, monogenic and environmental causes.[rmsjournal.org]


  • Summary Epidemiology About fifty cases have been reported so far.[orpha.net]
  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.de]
  • Epidemiology It was estimated that only about 50 cases of BOFS have been documented in the medical literature as of 2004. [4] References[ipfs.io]
Sex distribution
Age distribution


  • This syndrome is restricted to the face, but it can also cause underdeveloped or malformed kidneys. [3] Pathophysiology and genetics The disease is genetically inherited and stems from a mutation that deletes the TFAP2A gene.[ipfs.io]
  • This syndrome is restricted to the face, but it can also cause underdeveloped or malformed kidneys. [3] Pathophysiology and genetics [ edit ] The disease is genetically inherited and stems from a mutation that deletes the TFAP2A gene.[en.wikipedia.org]


  • Control and Prevention) FastStats: Birth Defects or Congenital Anomalies (National Center for Health Statistics) National Birth Defects Prevention Study (NBDPS) (Centers for Disease Control and Prevention) Congenital anomalies were diagnosed in 41/196[copy.freska66.ru]
  • Currently, there are no specific methods or guidelines to prevent Branchiootorenal/Branchiootic Syndrome, since it is a genetic condition Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of[dovemed.com]
  • Centers for Disease Control and Prevention[medlineplus.gov]
  • Causes of maxillary hypoplasia and possible prevention. Rev Stomatol Chir Maxillofac. 2007 Sep;108(4):297-300. Epub 2007 Aug 8. French. PubMed PMID: 17689577. 14: Bahuau M, Houdayer C, Tredano M, Soupre V, Couderc R, Vazquez MP.[gateway.ecoonline.org]

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