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Renpenning syndrome is a disorder that affects almost exclusively males, causing developmental delay, moderate to severe intellectual disability and distinguishing physical features. Individuals with Renpenning syndrome typically have a short stature and a small head size (microcephaly). Characteristic facial features of this disorder include a long narrow face; outside corners of the eyes pointing upwards (palpebral fissures); a long bulbous nose, with a low-hanging separating the nostrils (hanging columella); a small space between the nose and mouth (prominent); and cup-shaped ears. Males Renpenning syndrome usually have small testes. Seizures and waste away (atrophy) of the muscles used for movement (skeletal muscles) may also occur in this disorder.
About 20 percent of people with Renpenning syndrome also have other features, which may include a gap or split in structures that make up the eye (coloboma), an opening in the roof of the mouth (cleft palate), cardiac anomalies or malformations of the anus.
Certain combinations of features that often occur in Renpenning syndrome are sometimes called by other names, such as Golabi-Ito-Hall syndrome or Sutherland-Haan. However, all these syndromes, which have the same genetic cause, are now generally grouped under the term Renpenning syndrome.
These resources address the diagnosis or management of Renpenning syndrome and may include providers of treatment.
You may also find information about the diagnosis or management of Renpenning syndrome in patient support and educational resources.
To locate a healthcare provider, see how do I find a genetics professional in my area? in the manual.
The following resources on Renpenning syndrome may be useful. These materials are written for the general public.
You may also be interested in these resources, which are designed for health professionals and researchers.
This manual provides basic information on genetics in clear language.
These links provide additional resources that may be useful to genetics.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a genetic disease, syndrome or condition should consult with a qualified healthcare provider. See how do I find a genetics professional in my area? in the manual.
Renpenning syndrome is a disorder that affects almost exclusively males, causing developmental delay, moderate to severe intellectual disability and distinguishing physical features. Individuals with Renpenning syndrome typically have a short stature and a small head size (microcephaly). Characteristic facial features of this disorder include a long narrow face; outside corners of the eyes pointing upwards (palpebral fissures); a long bulbous nose, with a low-hanging separating the nostrils (hanging columella); a small space between the nose and mouth (prominent); and cup-shaped ears. Males Renpenning syndrome usually have small testes. Seizures and waste away (atrophy) of the muscles used for movement (skeletal muscles) may also occur in this disorder.
About 20 percent of people with Renpenning syndrome also have other features, which may include a gap or split in structures that make up the eye (coloboma), an opening in the roof of the mouth (cleft palate), cardiac anomalies or malformations of the anus.
Certain combinations of features that often occur in Renpenning syndrome are sometimes called by other names, such as Golabi-Ito-Hall syndrome or Sutherland-Haan. However, all these syndromes, which have the same genetic cause, are now generally grouped under the term Renpenning syndrome.
These resources address the diagnosis or management of Renpenning syndrome and may include providers of treatment.
You may also find information about the diagnosis or management of Renpenning syndrome in patient support and educational resources.
To locate a healthcare provider, see how do I find a genetics professional in my area? in the manual.
The following resources on Renpenning syndrome may be useful. These materials are written for the general public.
You may also be interested in these resources, which are designed for health professionals and researchers.
This manual provides basic information on genetics in clear language.
These links provide additional resources that may be useful to genetics.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a genetic disease, syndrome or condition should consult with a qualified healthcare provider. See how do I find a genetics professional in my area? in the manual.
Senior syndrome – ken is a rare condition characterized by the combination of two specific functions: a kidney condition called nephronophthisis and ocular disease known as congenital Leber amaurosis.
Nephronophthisis causes fluid-filled cysts develop in the kidneys begin during childhood. These cysts affect kidney function, initially causing increased urine production (polyuria) and excessive thirst (polydipsia), general weakness and extreme tiredness (fatigue). Nephronophthisis leading to end-terminal chronic renal failure (ESRD) later in childhood or adolescence. ESRD is a life-threatening renal function insufficiency occurs when the kidneys are no longer able to filter efficiently liquids and waste products from the body.
Amaurosis congenita of Leber mainly affects the retina, that is the specialized tissue in the back of the eye that senses light and color. This condition causes vision problems, including an increased sensitivity to light (photophobia), involuntary eye movements (nystagmus) and extreme farsightedness (hyperopia). Some people with the syndrome of Senior-L ken develop signs of congenital Leber amaurosis within the first few years of life, while others do not develop vision problems until later in childhood.
These resources address the diagnosis or management of Senior-L ken and may include providers of treatment.
You may also find information about the diagnosis or management of Senior-L ken in patient support and educational resources.
To locate a healthcare provider, see how do I find a genetics professional in my area? in the manual.
The following resources on Senior syndrome-L ken may be useful. These materials are written for the general public.
You may also be interested in these resources, which are designed for health professionals and researchers.
This manual provides basic information on genetics in clear language.
These links provide additional resources that may be useful to genetics.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a genetic disease, syndrome or condition should consult with a qualified healthcare provider. See how do I find a genetics professional in my area? in the manual.
Senior syndrome – ken is a rare condition characterized by the combination of two specific functions: a kidney condition called nephronophthisis and ocular disease known as congenital Leber amaurosis.
Nephronophthisis causes fluid-filled cysts develop in the kidneys begin during childhood. These cysts affect kidney function, initially causing increased urine production (polyuria) and excessive thirst (polydipsia), general weakness and extreme tiredness (fatigue). Nephronophthisis leading to end-terminal chronic renal failure (ESRD) later in childhood or adolescence. ESRD is a life-threatening renal function insufficiency occurs when the kidneys are no longer able to filter efficiently liquids and waste products from the body.
Amaurosis congenita of Leber mainly affects the retina, that is the specialized tissue in the back of the eye that senses light and color. This condition causes vision problems, including an increased sensitivity to light (photophobia), involuntary eye movements (nystagmus) and extreme farsightedness (hyperopia). Some people with the syndrome of Senior-L ken develop signs of congenital Leber amaurosis within the first few years of life, while others do not develop vision problems until later in childhood.
These resources address the diagnosis or management of Senior-L ken and may include providers of treatment.
You may also find information about the diagnosis or management of Senior-L ken in patient support and educational resources.
To locate a healthcare provider, see how do I find a genetics professional in my area? in the manual.
The following resources on Senior syndrome-L ken may be useful. These materials are written for the general public.
You may also be interested in these resources, which are designed for health professionals and researchers.
This manual provides basic information on genetics in clear language.
These links provide additional resources that may be useful to genetics.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a genetic disease, syndrome or condition should consult with a qualified healthcare provider. See how do I find a genetics professional in my area? in the manual.
Meckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. The most commonly used functions are enlarged kidneys with multiple cysts filled with; occipital encephalocele, which is similar to the sac of perforation of the brain through a hole in the back of the skull; (a) the presence of extra fingers and toes (polydactyly). Most of the people affected by the disease also have scar tissue buildup (by) in the liver.
Other signs and symptoms of Meckel Syndrome differ among people affected by the disease. The numerous irregularities in the brain and spinal cord (central nervous system) have been reported in humans with the band Diverticulum, in this group of birth defects known as neural tube defects. These defects occur when a structure called the tube Combs, the layer of cells, which eventually develops into the brain and the spinal cord, fails completely to close in the first few weeks of development of the embryo. Meckel syndrome can also cause problems with the development of eyes and other features of the face, heart, bone, urinary tract infection and the genitalia.
Because of their health problems, most of the people from the team of Meckel die before or shortly after birth. Most commonly affects infants die respiratory problems or kidney failure.
These resources Address diagnosis or Management Team Diverticulum and may include treatment of suppliers.
You can also learn about the diagnosis or Management Team Diverticulum educational resources and support to patients.
To locate a provider of health care, see how do I find a genetics professional in my area? in the manual.
The following resources about Team Diverticulum may find useful. These materials are written for the general public.
Can also be interested in these resources, which are intended for health professionals and researchers.
The manual contains basic information about genetics in clear language.
These links provide additional resources of modern genetics, which may be useful.
The resources on this page should not be used as a substitute for professional medical care or advice. Users seeking personal information of genetic disease, syndrome or condition, consult with a qualified professional care. See how you can find a genetics professional in my area? in the manual.View the original article here
Meckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. The most commonly used functions are enlarged kidneys with multiple cysts filled with; occipital encephalocele, which is similar to the sac of perforation of the brain through a hole in the back of the skull; (a) the presence of extra fingers and toes (polydactyly). Most of the people affected by the disease also have scar tissue buildup (by) in the liver.
Other signs and symptoms of Meckel Syndrome differ among people affected by the disease. The numerous irregularities in the brain and spinal cord (central nervous system) have been reported in humans with the band Diverticulum, in this group of birth defects known as neural tube defects. These defects occur when a structure called the tube Combs, the layer of cells, which eventually develops into the brain and the spinal cord, fails completely to close in the first few weeks of development of the embryo. Meckel syndrome can also cause problems with the development of eyes and other features of the face, heart, bone, urinary tract infection and the genitalia.
Because of their health problems, most of the people from the team of Meckel die before or shortly after birth. Most commonly affects infants die respiratory problems or kidney failure.
These resources Address diagnosis or Management Team Diverticulum and may include treatment of suppliers.
You can also learn about the diagnosis or Management Team Diverticulum educational resources and support to patients.
To locate a provider of health care, see how do I find a genetics professional in my area? in the manual.
The following resources about Team Diverticulum may find useful. These materials are written for the general public.
Can also be interested in these resources, which are intended for health professionals and researchers.
The manual contains basic information about genetics in clear language.
These links provide additional resources of modern genetics, which may be useful.
The resources on this page should not be used as a substitute for professional medical care or advice. Users seeking personal information of genetic disease, syndrome or condition, consult with a qualified professional care. See how you can find a genetics professional in my area? in the manual.View the original article here
,
, Terry Kit Selfea, b, c,
, Parul Agarwala, d,
a Department of Community Medicine, West Virginia University School of Medicine, PO Box 9190, Morgantown, WV 26506-9190, USAb Center for the Study of Complementary and Alternative Therapies, University of Virginia Health System, PO Box 800782, McLeod Hall, Charlottesville, VA 22908-0782, USAReceived 1 February 2011. Revised 7 April 2011. Accepted 11 April 2011. Available online 5 July 2011.View full text Restless legs syndrome (RLS) is a distressing sleep and sensorimotor disorder that affects a large percentage of adults in the western industrialized world and is associated with profound reductions in quality of life. However, the etiology of RLS remains incompletely understood. Enhanced understanding regarding both the antecedents and sequelae of RLS could shed new light on the pathogenesis of RLS. Evidence from an emerging body of literature suggests associations between RLS and diabetes, hypertension, obesity, and related conditions linked to sympathetic activation and metabolic dysregulation, raising the possibility that these factors may likewise play a significant role in the development and progression of RLS, and could help explain the recently documented associations between RLS and subsequent cardiovascular disease. However, the relation between RLS and these chronic conditions has received relatively little attention to date, although potential implications for the pathogenesis and treatment of RLS could be considerable. In this paper, we systematically review the recently published literature regarding the association of RLS to cardiovascular disease and related risk factors characterized by sympathoadrenal and metabolic dysregulation, discuss potential underlying mechanisms, and outline some possible directions for future research.prs.rt("abs_end");Restless legs syndrome; RLS; Ekbom disease; Cardiovascular disease; Hypertension; Diabetes; Impaired glucose tolerance; Obesity; Weight gain; Dyslipidemia; Autonomic dysfunction; HPA axis dysfunctionFigures and tables from this article:
Table 1. Summary table of study characteristics. N = 30 studies (1995-2010).
,
, Terry Kit Selfea, b, c,
, Parul Agarwala, d,
a Department of Community Medicine, West Virginia University School of Medicine, PO Box 9190, Morgantown, WV 26506-9190, USAb Center for the Study of Complementary and Alternative Therapies, University of Virginia Health System, PO Box 800782, McLeod Hall, Charlottesville, VA 22908-0782, USAReceived 1 February 2011. Revised 7 April 2011. Accepted 11 April 2011. Available online 5 July 2011.View full text Restless legs syndrome (RLS) is a distressing sleep and sensorimotor disorder that affects a large percentage of adults in the western industrialized world and is associated with profound reductions in quality of life. However, the etiology of RLS remains incompletely understood. Enhanced understanding regarding both the antecedents and sequelae of RLS could shed new light on the pathogenesis of RLS. Evidence from an emerging body of literature suggests associations between RLS and diabetes, hypertension, obesity, and related conditions linked to sympathetic activation and metabolic dysregulation, raising the possibility that these factors may likewise play a significant role in the development and progression of RLS, and could help explain the recently documented associations between RLS and subsequent cardiovascular disease. However, the relation between RLS and these chronic conditions has received relatively little attention to date, although potential implications for the pathogenesis and treatment of RLS could be considerable. In this paper, we systematically review the recently published literature regarding the association of RLS to cardiovascular disease and related risk factors characterized by sympathoadrenal and metabolic dysregulation, discuss potential underlying mechanisms, and outline some possible directions for future research.prs.rt("abs_end");Restless legs syndrome; RLS; Ekbom disease; Cardiovascular disease; Hypertension; Diabetes; Impaired glucose tolerance; Obesity; Weight gain; Dyslipidemia; Autonomic dysfunction; HPA axis dysfunctionFigures and tables from this article:
Table 1. Summary table of study characteristics. N = 30 studies (1995-2010).
,
, Terry Kit Selfea, b, c,
, Parul Agarwala, d,
a Department of Community Medicine, West Virginia University School of Medicine, PO Box 9190, Morgantown, WV 26506-9190, USAb Center for the Study of Complementary and Alternative Therapies, University of Virginia Health System, PO Box 800782, McLeod Hall, Charlottesville, VA 22908-0782, USAReceived 1 February 2011. Revised 7 April 2011. Accepted 11 April 2011. Available online 5 July 2011.View full text Restless legs syndrome (RLS) is a distressing sleep and sensorimotor disorder that affects a large percentage of adults in the western industrialized world and is associated with profound reductions in quality of life. However, the etiology of RLS remains incompletely understood. Enhanced understanding regarding both the antecedents and sequelae of RLS could shed new light on the pathogenesis of RLS. Evidence from an emerging body of literature suggests associations between RLS and diabetes, hypertension, obesity, and related conditions linked to sympathetic activation and metabolic dysregulation, raising the possibility that these factors may likewise play a significant role in the development and progression of RLS, and could help explain the recently documented associations between RLS and subsequent cardiovascular disease. However, the relation between RLS and these chronic conditions has received relatively little attention to date, although potential implications for the pathogenesis and treatment of RLS could be considerable. In this paper, we systematically review the recently published literature regarding the association of RLS to cardiovascular disease and related risk factors characterized by sympathoadrenal and metabolic dysregulation, discuss potential underlying mechanisms, and outline some possible directions for future research.prs.rt("abs_end");Restless legs syndrome; RLS; Ekbom disease; Cardiovascular disease; Hypertension; Diabetes; Impaired glucose tolerance; Obesity; Weight gain; Dyslipidemia; Autonomic dysfunction; HPA axis dysfunctionFigures and tables from this article:
Table 1. Summary table of study characteristics. N = 30 studies (1995-2010).
Figures and tables from this article:
Fig. 1. Changes in RLS prevalence rates in North America and Europe general population according to used definitions. *Prevalence rates for differential diagnosis came from primary care samples. Prevalence estimates are based on samples including participants from 18 to =65 years.View Within ArticleFig. 2. a. Prevalence of RLS in men – North America and Europe. Included 12 studies that had provided prevalence by age groups for men. These studies are based on minimal IRLSSG criteria. A total of 23,282 men aged =18 are included in the scatter plot. b. Prevalence of RLS in men – Asia. Included 5 studies that had provided prevalence by age groups for men. These studies are based on minimal IRLSSG criteria. A total of 8081 men aged =18 are included in the scatter plot. c. Prevalence of RLS in women – North America and Europe. Included 12 studies that had provided prevalence by age groups for women. These studies are based on minimal IRLSSG criteria. A total of 26,150 women aged =18 are included in the scatter plot. d. Prevalence of RLS in women – Asia. Included 6 studies that had provided prevalence by age groups for women. These studies are based on minimal IRLSSG criteria. A total of 11,253 women aged =18 are included in the scatter plot.View Within ArticleTable 1. Prevalence for restless leg syndrome or symptoms in the general population.
Figures and tables from this article:
Fig. 1. Changes in RLS prevalence rates in North America and Europe general population according to used definitions. *Prevalence rates for differential diagnosis came from primary care samples. Prevalence estimates are based on samples including participants from 18 to =65 years.View Within ArticleFig. 2. a. Prevalence of RLS in men – North America and Europe. Included 12 studies that had provided prevalence by age groups for men. These studies are based on minimal IRLSSG criteria. A total of 23,282 men aged =18 are included in the scatter plot. b. Prevalence of RLS in men – Asia. Included 5 studies that had provided prevalence by age groups for men. These studies are based on minimal IRLSSG criteria. A total of 8081 men aged =18 are included in the scatter plot. c. Prevalence of RLS in women – North America and Europe. Included 12 studies that had provided prevalence by age groups for women. These studies are based on minimal IRLSSG criteria. A total of 26,150 women aged =18 are included in the scatter plot. d. Prevalence of RLS in women – Asia. Included 6 studies that had provided prevalence by age groups for women. These studies are based on minimal IRLSSG criteria. A total of 11,253 women aged =18 are included in the scatter plot.View Within ArticleTable 1. Prevalence for restless leg syndrome or symptoms in the general population.
Figures and tables from this article:
Fig. 1. Changes in RLS prevalence rates in North America and Europe general population according to used definitions. *Prevalence rates for differential diagnosis came from primary care samples. Prevalence estimates are based on samples including participants from 18 to =65 years.View Within ArticleFig. 2. a. Prevalence of RLS in men – North America and Europe. Included 12 studies that had provided prevalence by age groups for men. These studies are based on minimal IRLSSG criteria. A total of 23,282 men aged =18 are included in the scatter plot. b. Prevalence of RLS in men – Asia. Included 5 studies that had provided prevalence by age groups for men. These studies are based on minimal IRLSSG criteria. A total of 8081 men aged =18 are included in the scatter plot. c. Prevalence of RLS in women – North America and Europe. Included 12 studies that had provided prevalence by age groups for women. These studies are based on minimal IRLSSG criteria. A total of 26,150 women aged =18 are included in the scatter plot. d. Prevalence of RLS in women – Asia. Included 6 studies that had provided prevalence by age groups for women. These studies are based on minimal IRLSSG criteria. A total of 11,253 women aged =18 are included in the scatter plot.View Within ArticleTable 1. Prevalence for restless leg syndrome or symptoms in the general population.
Fig. 1. Potential interplay of pathologic factors in secondary RLS. Abbreviations: RLS: restless legs syndrome; Inflam & Immune: inflammation and/or altered immunity; SIBO: small intestinal bacterial overgrowth; Neuropathy: peripheral neuropathy.
View Within ArticleFig. 2. [26], [55], [56] and [125] of hepcidin synthesis in the setting of inflammation and theoretical consequences for developing CNS iron deficiency and subsequent RLS. Hepcidin is the main hormone involved in regulation of iron levels and has been shown to be produced by the liver in humans and in the brain in animal models. Increased hepcidin levels lead to iron deficiency. Interleukin-6 is the main cytokine that can increase hepcidin levels. Lipopolysaccharides which are breakdown products of gram negative bacteria stimulate hepcidin synthesis. Hypoxia also stimulates hepcidin synthesis. Hepcidin binds to ferroportin on human choroid plexus cells and decrease availability of iron for the CNS. Not shown – Bacteria may also utilize iron and cause iron deficiency.57 Abbreviations: LPS: lipopolysaccharides.
View Within ArticleTable 1. Iron deficiency, small intestinal bacterial overgrowth (SIBO), inflammation and/or immunological alterations and peripheral neuropathy in conditions associated with restless legs syndrome (RLS). References are categorized as either: a controlled study (CS); an observational case series (OS); a laboratory study (LS) which uses defined assays but does not have a control group; or a review article (RA). Highly-associated conditions are defined as RLS conditions shown to have a statistically higher prevalence than controls. This table does not include seven single case reports associated with RLS (see result section).
Fig. 1. Potential interplay of pathologic factors in secondary RLS. Abbreviations: RLS: restless legs syndrome; Inflam & Immune: inflammation and/or altered immunity; SIBO: small intestinal bacterial overgrowth; Neuropathy: peripheral neuropathy.
View Within ArticleFig. 2. [26], [55], [56] and [125] of hepcidin synthesis in the setting of inflammation and theoretical consequences for developing CNS iron deficiency and subsequent RLS. Hepcidin is the main hormone involved in regulation of iron levels and has been shown to be produced by the liver in humans and in the brain in animal models. Increased hepcidin levels lead to iron deficiency. Interleukin-6 is the main cytokine that can increase hepcidin levels. Lipopolysaccharides which are breakdown products of gram negative bacteria stimulate hepcidin synthesis. Hypoxia also stimulates hepcidin synthesis. Hepcidin binds to ferroportin on human choroid plexus cells and decrease availability of iron for the CNS. Not shown – Bacteria may also utilize iron and cause iron deficiency.57 Abbreviations: LPS: lipopolysaccharides.
View Within ArticleTable 1. Iron deficiency, small intestinal bacterial overgrowth (SIBO), inflammation and/or immunological alterations and peripheral neuropathy in conditions associated with restless legs syndrome (RLS). References are categorized as either: a controlled study (CS); an observational case series (OS); a laboratory study (LS) which uses defined assays but does not have a control group; or a review article (RA). Highly-associated conditions are defined as RLS conditions shown to have a statistically higher prevalence than controls. This table does not include seven single case reports associated with RLS (see result section).
Fig. 1. Potential interplay of pathologic factors in secondary RLS. Abbreviations: RLS: restless legs syndrome; Inflam & Immune: inflammation and/or altered immunity; SIBO: small intestinal bacterial overgrowth; Neuropathy: peripheral neuropathy.
View Within ArticleFig. 2. [26], [55], [56] and [125] of hepcidin synthesis in the setting of inflammation and theoretical consequences for developing CNS iron deficiency and subsequent RLS. Hepcidin is the main hormone involved in regulation of iron levels and has been shown to be produced by the liver in humans and in the brain in animal models. Increased hepcidin levels lead to iron deficiency. Interleukin-6 is the main cytokine that can increase hepcidin levels. Lipopolysaccharides which are breakdown products of gram negative bacteria stimulate hepcidin synthesis. Hypoxia also stimulates hepcidin synthesis. Hepcidin binds to ferroportin on human choroid plexus cells and decrease availability of iron for the CNS. Not shown – Bacteria may also utilize iron and cause iron deficiency.57 Abbreviations: LPS: lipopolysaccharides.
View Within ArticleTable 1. Iron deficiency, small intestinal bacterial overgrowth (SIBO), inflammation and/or immunological alterations and peripheral neuropathy in conditions associated with restless legs syndrome (RLS). References are categorized as either: a controlled study (CS); an observational case series (OS); a laboratory study (LS) which uses defined assays but does not have a control group; or a review article (RA). Highly-associated conditions are defined as RLS conditions shown to have a statistically higher prevalence than controls. This table does not include seven single case reports associated with RLS (see result section).