Feigenbaum-Bergeron-Richardson syndrome explained

Feigenbaum-Bergeron-Richardson syndrome
Synonyms:Atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease, premature atherosclerosis with photomyoclonic epilepsy, deafness, diabetes mellitus, nephropathy, and neurodegenerative disorder.[1]
Prevention:none
Prognosis:Bad, people with the disorder die in their 30s-40s
Frequency:very 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[2] genetic disorder which is characterized by atherosclerosis, hearing loss, diabetes mellitus, epilepsy, progressive neurological deterioration and nephropathy.[3] [4] [5] [6] 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.[7] People with this disorder don't usually live beyond 30 to 40 years of age.[8]

Notes and References

  1. Web site: Feigenbaum Bergeron Richardson syndrome . 16 June 2022 .
  2. Web site: RESERVADOS . INSERM US14-- TODOS LOS DERECHOS . Orphanet: Syndrome de Feigenbaum Bergeron Richardson . 2022-05-15 . www.orpha.net . es.
  3. Web site: RESERVED . INSERM US14-- ALL RIGHTS . Orphanet: Atherosclerosis deafness diabetes epilepsy nephropathy syndrome . 2022-05-15 . www.orpha.net . en.
  4. Web site: Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome (Concept Id: C1859596) - MedGen - NCBI . 2022-05-15 . www.ncbi.nlm.nih.gov . en.
  5. Web site: Feigenbaum Bergeron Richardson syndrome - About the Disease - Genetic and Rare Diseases Information Center . 2022-05-15 . rarediseases.info.nih.gov . en.
  6. Web site: Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease. 2022-05-15 . www.malacards.org.
  7. Web site: Sensory 5 . Feigenbaum Bergeron Richardson syndrome Rare Diseases . 2022-05-15 . RareGuru . en.
  8. 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 . 10.1002/ajmg.1320490124 . 0148-7299 . 8172238.

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