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Feigenbaum-Bergeron-Richardson syndrome

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Medical condition
Feigenbaum-Bergeron-Richardson syndrome
Other namesAtherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease, premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder.
SpecialtyMedical genetics
CausesGenetic mutation
Preventionnone
PrognosisBad, people with the disorder die in their 30s-40s
Frequencyvery rare, only 1 family is known to have the disorder

Feigenbaum Bergeron Richardson syndrome, also known as Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome is a very rare fatal genetic disorder which is characterized by atherosclerosis, hearing loss, diabetes mellitus, epilepsy, progressive neurological deterioration and nephropathy. This disorder has been described in two brothers, and it is thought to be inherited in either an autosomal or X-linked recessive manner. No new cases have been reported since 1994. People with this disorder don't usually live beyond 30 to 40 years of age.

References

  1. "Feigenbaum Bergeron Richardson syndrome". 16 June 2022.
  2. RESERVADOS, INSERM US14-- TODOS LOS DERECHOS. "Orphanet: Syndrome de Feigenbaum Bergeron Richardson". www.orpha.net (in Spanish). Retrieved 2022-05-15.{{cite web}}: CS1 maint: numeric names: authors list (link)
  3. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Atherosclerosis deafness diabetes epilepsy nephropathy syndrome". www.orpha.net. Retrieved 2022-05-15.{{cite web}}: CS1 maint: numeric names: authors list (link)
  4. "Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome (Concept Id: C1859596) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-15.
  5. "Feigenbaum Bergeron Richardson syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-15.
  6. "Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease". www.malacards.org. Retrieved 2022-05-15.
  7. Bissonnette, Bruno; Luginbuehl, Igor; Marciniak, Bruno; Dalens, Bernard J. (2006), "Feigenbaum Bergeron Richardson Syndrome", Syndromes: Rapid Recognition and Perioperative Implications, New York, NY: The McGraw-Hill Companies, retrieved 2022-05-15
  8. Sensory 5. "Feigenbaum Bergeron Richardson syndrome | Rare Diseases". RareGuru. Retrieved 2022-05-15.{{cite web}}: CS1 maint: numeric names: authors list (link)
  9. Feigenbaum, A.; Bergeron, C.; Richardson, R.; Wherrett, J.; Robinson, B.; Weksberg, R. (1994-01-01). "Premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder in two brothers: a new syndrome?". American Journal of Medical Genetics. 49 (1): 118–124. doi:10.1002/ajmg.1320490124. ISSN 0148-7299. PMID 8172238.
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