Symptoma

Branchio-Oculo-Facial Syndrome

BOFS

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]

  • Skin Lesion

    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]

    These consist of branchial anomalies, including supra-auricular sinuses, and aplastic cervical skin lesions, with possible ectopic dermal thymus, malformed auricles, stenotic external auditory canals, conductive hearing loss, ocular abnormalities (microphthalmia [ncbi.nlm.nih.gov]

  • Cutaneous Manifestation

    These cutaneous manifestations can vary from Keloid-like and scar-like lesions to eroded, unepithelialized skin.[4],[5] In some cases, this skin defect manifests as hemangiomatous lesions.[6],[7] Very little data exist regarding the histopathological [go.gale.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]

  • 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]

  • 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]

Qualifiers English: BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DI diagnosis DG diagnostic imaging DH diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology [decs.bvs.br]

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]

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]

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]

[…] mutations within the TFAP2A gene (Activating Enhancer-Binding Protein) result in the distinctive clefting disorder Branchio-Oculo-Facial syndrome (BOFS). 23 Apr 2008 Trending Stories Latest Interviews Top Health Articles Scientists may have found a way to prevent [news-medical.net]

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]

[…] diet therapy DT drug therapy EC economics EM embryology EN enzymology EP epidemiology EH ethnology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PS parasitology PA pathology PP physiopathology PC prevention [decs.bvs.br]