Hing et al10 described a patient presenting multiple malformations and AVSD resembling BOFS. He presented some atypical findings such as holoprosencephaly and meningoencephalocele. [scielo.br]

Diagnostic methods The clinical diagnosis of BOFS is established if all three of the main features (branchial, ocular and craniofacial) are present or if two of the three main features are present in addition to either ectopic thymus or a positive family [orpha.net]

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]

• Small Teeth

  Teeth can be small, absent or malformed. The nose is malformed with a broad bridge and flattened tip. The ears are malformed, typically low-set and posteriorly rotated. Hair may be prematurely grey. [rarediseases.org]

• 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 [advbiores.net]

• Skin Patch

  Skip to content Branchio-oculo-facial Syndrome (BOF) Branchio-oculo-facial Syndrome (BOF) This is a very rare birth defect that is characterized by low birth weight and distinctive malformations of the head and facial area; abnormal skin patches on the [facesofchildren.org]

• Loss of Speech

  Symptoms May Include Loss of speech Loss of purposeful use of hands Involuntary hand movements such as handwashing Loss of mobility or gait disturbances Loss of muscle tone Seizures or Rett “episodes” Scoliosis Breathing issues Sleep disturbances Slowed [rettsyndrome.org]

  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]

• 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]

• Aura

  An aura of inevitability envelopes sudden cardiac death as it is deemed “unknowable” and thus “unpreventable.” [journals.lww.com]

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]

Information about a therapy, service, product or treatment does not in any way endorse or support such therapy, service, product or treatment and is not intended to replace advice from your doctor or other registered health professional. [betterhealth.vic.gov.au]

Prognosis Prognosis is generally good but depends on the severity of associated manifestations. [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]

Summary Epidemiology About fifty cases have been reported so far. [orpha.net]

Genetic counseling is recommended for the patients and their families for reproductive health. [4] Epidemiology[edit] It was estimated that only 100 cases of BOFS have been documented in the medical literature as of 2018 .[4] References[edit] ^ a b c [en.wikipedia.org]

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

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]

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]

Fragile X is caused by a mutation in the FMR1 gene that prevents the body from making an important protein, called FMRP. This protein helps create and maintain connections between brain cells and the nervous system. [childrenshospital.org]

[…] 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]