Feigenbaum-Bergeron-Richardson syndrome
(Redirected from Premature atherosclerosis photomyoclonic epilepsy)
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.[7] No new cases have been reported since 1994.[8] People with this disorder don't usually live beyond 30 to 40 years of age.[9]
| Feigenbaum-Bergeron-Richardson syndrome | |
|---|---|
| Other names | 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] |
 | |
| Specialty | Medical genetics |
| Causes | Genetic mutation |
| 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 |
References
edit- ^ "Feigenbaum Bergeron Richardson syndrome". 16 June 2022.
- ^ 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) - ^ 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) - ^ "Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome (Concept Id: C1859596) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-15.
- ^ "Feigenbaum Bergeron Richardson syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-15.
- ^ "Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease". www.malacards.org. Retrieved 2022-05-15.
- ^ 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
- ^ Sensory 5. "Feigenbaum Bergeron Richardson syndrome | Rare Diseases". RareGuru. Retrieved 2022-05-15.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ 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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