Branchiooculofacial syndrome

Summary: Branchiooculo facial syndrome (BOFS) is a very rare genetic disorder that is apparent at birth. Only about 50 cases of BOFS had been reported in the medical literature. Like its name implies, BOFS is characterized by skin defects, eye abnormalities ...1

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Symptoms of Branchiooculofacial syndrome

Symptoms: The characteristic signs and symptoms of BOFS include skin defects, eye abnormalities, and distinctive facial features. These features vary among affected individuals. The skin defects include proliferation of blood vessels (hemangiomatous) in the lower neck or upper chest; lumps ...2

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Diagnosis of Branchiooculofacial syndrome

Diagnosis: BOFS can be diagnosed clinically based on the characteristic features of this condition. Genetic testing can also confirm the diagnosis.[3] GeneTests lists the names of laboratories that are performing genetic testing for branchiooculofacial syndrome. To view the contact ...3

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Genetics of Branchiooculofacial syndrome

Inheritance: Although some cases can be sporadic, most of the reported cases are inherited within families. BOFS is inherited in an autosomal dominant pattern, which means that one copy of the altered TFAP2A gene in each cell is sufficient to ...4

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Names and Terminology

Other Names: BOFS syndrome; Branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging; Hemangiomatous branchial clefts-lip pseudocleft syndrome; BOFS syndrome ...5

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References

  1. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 3212/ branchiooculofacial-syndrome
  2. ibid.
  3. ibid.
  4. ibid.
  5. ibid.

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