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 Discoloration

  It is not unusual to see some skin discoloration behind the ears. The nasal bridge is broad, the top of the nose is flattened, and the philtrum is often short. [disorders.eyes.arizona.edu]

• 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]

• 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]

• 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 [ncbi.nlm.nih.gov]

• Speech Disability

  In addition to the structural differences, there can be visual impairment, hearing loss and speech disabilities. Autism spectrum disorder, congenital heart defects, and polydactyly are rare. [rarediseases.org]

• Loss of Speech

  In addition to the structural differences, there can be visual impairment, hearing loss and speech disabilities. Autism spectrum disorder, congenital heart defects, and polydactyly are rare. [rarediseases.org]

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]

More generally, our results highlight potential etiological mechanisms for other human neurocristopathies and illustrate how TAD disruption can lead to a loss of enhancer gene-interactions and, consequently, to pathological changes in gene expression. [omictools.com]

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]

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]

[…] 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]

Centers for Disease Control and Prevention [medlineplus.gov]