Medicine:Feigenbaum-Bergeron-Richardson syndrome
From HandWiki
| 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] |
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| 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 |
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]
References
- ↑ "Feigenbaum Bergeron Richardson syndrome". https://rarediseases.org/gard-rare-disease/feigenbaum-bergeron-richardson-syndrome/.
- ↑ RESERVADOS, INSERM US14-- TODOS LOS DERECHOS. "Orphanet: Syndrome de Feigenbaum Bergeron Richardson" (in es). https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=ES&data_id=3154&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=1192&Maladie(s)/groupes%20de%20maladies=Syndrome-de-Feigenbaum-Bergeron-Richardson&title=Syndrome-de-Feigenbaum-Bergeron-Richardson&search=Disease_Search_Simple.
- ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Atherosclerosis deafness diabetes epilepsy nephropathy syndrome" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1192.
- ↑ "Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome (Concept Id: C1859596) - MedGen - NCBI" (in en). https://www.ncbi.nlm.nih.gov/medgen/349198.
- ↑ "Feigenbaum Bergeron Richardson syndrome - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/2279/feigenbaum-bergeron-richardson-syndrome.
- ↑ "Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease". https://www.malacards.org/card/atherosclerosis_premature_with_deafness_nephropathy_diabetes_mellitus_photomyoclonus_and_degenerative_neurologic_disease.
- ↑ 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), http://accessanesthesiology.mhmedical.com/content.aspx?aid=58070768, retrieved 2022-05-15
- ↑ Sensory 5. "Feigenbaum Bergeron Richardson syndrome | Rare Diseases" (in en). https://rareguru.com/library/disease/2301/feigenbaum-bergeron-richardson-syndrome.
- ↑ 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. https://pubmed.ncbi.nlm.nih.gov/8172238/.
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