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 |
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]
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)
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 |
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]
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)
{{
cite web}}
: CS1 maint: numeric names: authors list (
link)