1. Riley-Day Syndrome rileyday syndrome. familial dysautonomia autosomal recessive; seenin Jewish infants. malfunction of autonomic nervous system; possibly http://chorus.rad.mcw.edu/doc/00356.html

CHORUS Collaborative Hypertext of Radiology Respiratory system Feedback Search Riley-Day syndrome familial dysautonomia autosomal recessive seen in Jewish infants malfunction of autonomic nervous system possibly associated with catecholamine release + beta-NGF hypersecretion of mucous glands XR resembles cystic fibrosis Charles E. Kahn, Jr., MD - 2 February 1995 Last updated 14 March 2001 Medical College of Wisconsin

2. MEDLINEplus Medical Encyclopedia: Riley-Day Syndrome rileyday syndrome. A person who lives into their 40s is old for a Riley-Daysyndrome patient. Half of patients do not survive past 20 years of age. http://www.nlm.nih.gov/medlineplus/ency/article/001387.htm

Skip navigation Medical Encyclopedia Other encyclopedia topics: A-Ag Ah-Ap Aq-Az B-Bk ... Z Riley-Day syndrome Contents of this page: Illustrations Alternative names Definition Causes, incidence, and risk factors ... Prevention Illustrations Chromosomes and DNA Alternative names Return to top Familial dysautonomia; Hereditary sensory and autonomic neuropathy - type III Definition Return to top An inherited disorder that affects sensory and autonomic nerve function in many body parts/systems. Causes, incidence, and risk factors Return to top Riley-Day syndrome is inherited as an autosomal recessive trait that is found predominantly in the European Jewish population (Ashkenazi Jews). The disease is caused by mutation of the IKBKAP gene on chromosome 9. It is not rare in Ashkenazi Jews where the incidence is estimated to be 1 in 3700 people. Infants with this condition have feeding problems and develop pneumonia caused by inhalation of their formula and food. Episodic vomiting and sweating spells begin following infancy. Young children also have breath-holding spells that produce unconsciousness Insensitivity to pain is a hallmark of Riley-Day syndrome and leads to unnoticed injuries or injuries that might not have occurred had the child sensed discomfort. Children do not feel the normal sensations that generally warn of impending injury such as drying of the eyes, pressure over pressure points, and

3. Riley-Day Syndrome rileyday syndrome. DEFINITION A familial dysautonomia characterized by infantile hypotonia, autonomic crises, and http://www.icondata.com/health/pedbase/files/RILEY-DA.HTM

Pediatric Database (PEDBASE) Discipline: CNS Last Updated: 1/12/94 RILEY-DAY SYNDROME DEFINITION: A familial dysautonomia characterized by infantile hypotonia, autonomic crises, and other neurological manifestations. EPIDEMIOLOGY: incidence: 1/10,000-20,000 (in Eastern European Jews) age of onset: infancy risk factors: familial - autosomal recessive chrom.#: ? gene: ? PATHOGENESIS: 1. Genetic Defect 1. Small unmyelinated nerve fibres which carry: pain - insensitivity to pain, traumatic injuries temp - poor body temperature control taste - reduced number or absence of taste buds autonomic function - autonomic crises 2. Large myelinated nerve fibres which carry: input from muscle spindles - ataxia, clumsy walk input form Golgi tendon organs - absent deep tendon reflexes (DTR) PATHOLOGY: 1. Nerve Biopsy (Sural Nerve) reduced number of: small unmyelinated nerve fibres large myelinated afferent nerve fibres CLINICAL FEATURES: 1. Neurological Manifestations 1. Infancy infantile hypotonia poor suck and swallow +/- failure to thrive (FTT) feeding difficulties with aspiration pneumonia 2. Childhood (1-5 years)

4. Riley-Day Syndrome a family history of rileyday syndrome. Ashkenazi Jewish heritage http://www.pennhealth.com/ency/article/001387sym.htm

Disease Injury Nutrition Poison ... Prevention Riley-Day syndrome Alternative Names: Familial dysautonomia; Hereditary sensory and autonomic neuropathy - type III Symptoms: a family history of Riley-Day syndrome Ashkenazi Jewish heritage feeding difficulties poor sucking and poor ability to swallow, drooling breath holding sweating while eating protracted episodes of vomiting lack of response to painful stimuli seizures hypotonia , low muscle tone abnormal body temperature (high or low) abnormally high blood pressure that is intermittent incoordination, unsteady gait an unusually smooth tongue surface (due to absence of fungiform papillae) Signs and tests: repeat aspiration pneumonia cyclic vomiting unsteady gait delayed puberty speech abnormalities corneal damage due to lack of tearing and blink reflex, gentle touching cornea with 'Q-Tip' won't produce a blink absent or decreased deep tendon reflexes insensitivity to pain normal intellect Tests: X-ray of the chest showing signs of recurrent aspiration pneumonia VMA - decreased HVA - elevated absence of flare response to histamine (Normally when histamine is injected just under the skin there will be swelling and redness. If there is a lack of this flair response or swelling/redness, the test is positive i.e., indicates Riley-Day syndrome.)

5. Familial Dysautonomia Village Resource for families, researchers, and clinicians interested in FD. Also known as rileyday syndrome. http://www.fdvillage.org

FD Village Official Website for Familial Dysautonomia HOPE Foundation Familial Dysautonomia Village is the official website for Familial Dysautonomia Hope Foundation (FD Hope), founded in early 2001 by several families with children with familial dysautonomia. FD Hope is a public, tax-exempt, nonprofit organization pursuant to Section 501(c)(3) of the Internal Revenue Code, and all gifts and donations to FD Hope are tax deductible. FD Hope was formed to expand and accelerate top-rate scientific research aimed at finding a cure and improving the lives of the children and adults with familial dysautonomia. Our mission is to find a cure for familial dysautonomia by funding relevant research programs, to provide a support network aimed at addressing the needs of patients and families, and to promote familial dysautonomia education and awareness programs in the medical community and the public. NIH SPONSORS CONFERENCE ON FAMILIAL DYSAUTONOMIA For details, go to What's New To translate this site into French, Spanish, German, Italian, or Portuguese, click here About Familial Dysautonomia: Also known as: Riley-Day Syndrome (After the two pediatricians that described the disorder in 1949) and;

6. R - CHORUS middle lobe syndrome; right ventricular hypertrophy; right ventricularvolume overload; Rigler sign; rileyday syndrome; ring lesions in http://chorus.rad.mcw.edu/to-go/R.html

R Rancke complex rapid demineralization / osteopenia recurrent pneumonia in childhood reflex sympathetic dystrophy ... Home

7. Familial Dysautonomia (Riley-Day Syndrome) a CHORUS notecard document about rileyday syndrome. riley-day syndrome. http://www.uwcm.ac.uk/uwcm/mg/fidd/pages/846.html

Disease : Familial dysautonomia (Riley-Day syndrome) OMIM number : Body System : Type : Inheritance pattern : AR Incidence/prevalence : I Population surveyed : USA (Jews, Ashkenazi) Date of survey : Number of cases : Size of population surveyed : Frequency figure (1 in ...) : From 10,000 to 20,000 Frequency figure for females : Method (direct/indirect) : I Reference : Brunt PW, McKusick VA. Familial dysautonomia. A report of genetic and clinical studies, with review of the literature. Medicine 1970;49:343-374. Comments : Also in: Meals RA. Paradoxical frequencies of recessive disorders in Ashkenazic Jews. J Chron Dis 1971;23:547-558.

8. 1Up Health > Riley-Day Syndrome > Causes, Incidence, And Risk Factors Of Riley-D 1Up Health Diseases Conditions rileyday syndrome Causes, Incidence,and Risk Factors. riley-day syndrome Causes, Incidence, and Risk Factors. http://www.1uphealth.com/health/riley_day_syndrome_info.html

1Up Health Riley-Day syndrome Alternative Medicine Clinical Trials ... Health Topics A-Z Search 1Up Health Riley-Day syndrome Information Riley-Day syndrome Causes, Incidence, and Risk Factors Alternative names : Familial dysautonomia, Hereditary sensory and autonomic neuropathy - type III Definition : An inherited disorder that affects sensory and autonomic nerve function in many body parts/systems. Causes, Incidence, and Risk Factors Riley-Day syndrome is inherited as an autosomal recessive trait that is found predominantly in the European Jewish population (Ashkenazi Jews). The disease is caused by mutation of the IKBKAP gene on chromosome 9. It is not rare in Ashkenazi Jews where the incidence is estimated to be 1 in 3700 people. Infants with this condition have feeding problems and develop pneumonia caused by inhalation of their formula and food. Episodic vomiting and sweating spells begin following infancy. Young children also have breath-holding spells that produce unconsciousness Insensitivity to pain is a hallmark of Riley-Day syndrome and leads to unnoticed injuries or injuries that might not have occurred had the child sensed discomfort. Children do not feel the normal sensations that generally warn of impending injury such as drying of the eyes, pressure over pressure points, and chronic rubbing and chaffing.

9. Riley-Day Syndrome A resource with information on over 4000 medical topics including rileyday syndrome http://www.marylandthoracicsurgery.com/medical-terms/03550.htm

Riley-Day syndrome A Medical Encyclopedia Article provided by North Arundel Hospital A resource with information on over 4000 medical topics including: Riley-Day syndrome Previous Next

10. 1Up Health > Riley-Day Syndrome (Familial Dysautonomia, Hereditary Sensory And A 1Up Health Diseases Conditions rileyday syndrome. Search 1Up Health. Diseases Conditions . riley-day syndrome Information. Guide. Alternative names http://www.1uphealth.com/health/riley_day_syndrome.html

1Up Health Alternative Medicine Clinical Trials Health News ... Health Topics A-Z Search 1Up Health Riley-Day syndrome Information Guide Alternative names : Familial dysautonomia, Hereditary sensory and autonomic neuropathy - type III Definition : An inherited disorder that affects sensory and autonomic nerve function in many body parts/systems. Jump to a Section of this Guide Definition Causes, Incidence, and Risk Factors Symptoms Prevention ... Calling your Health Care Provider Related Tools and Utilities Search Books on Amazon: Read Articles on eLibrary: Health Products on drugstore.com: Aspiration pneumonia Diabetes Pneumonia More ... More More Topics Autosomal recessive Blood pressure - low Chronic Genetic counseling and prenatal diagnosis ... More Search 1Up Health A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial reviewers . A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch). Home Contact Us Privacy Links Directory

11. Riley Day Syndrome HOME Riley Day Syndrome (Familial Dysautonomia, Hereditary Sensoryand Autonomic Neuropathy III). rileyday syndrome; GENETIC DISEASE http://www.bdid.com/rileyday.htm

HOME Riley Day Syndrome (Familial Dysautonomia, Hereditary Sensory and Autonomic Neuropathy III) Riley-Day syndrome GENETIC DISEASE FAQ RDS Riley-Day Syndrome ... HOME

12. Riley-Day Syndrome seen in Jewish infants malfunction of autonomic nervous system possibly associated with catecholamine release + betaNGF hypersecretion of mucous glands © 2002, C.E. http://chorus.rad.mcw.edu/to-go/00356.html

Riley-Day syndrome familial dysautonomia autosomal recessive seen in Jewish infants malfunction of autonomic nervous system possibly associated with catecholamine release + beta-NGF hypersecretion of mucous glands XR resembles cystic fibrosis Home Respiratory system

13. Riley-Day Syndrome - HUM-MOLGEN Author, Topic rileyday syndrome. We have a family with four year oldex-child due to riley-day syndrome. There is no DNA of this child. http://www.hum-molgen.de/bb/Forum2/HTML/000021.html

home genetic news bioinformatics biotechnology ... DIAGnostics - Clinical Research (professional requests) Riley-Day Syndrome profile register preferences faq ... next oldest topic Author Topic: Riley-Day Syndrome Administrator Administrator posted 02-09-2000 04:52 PM We have a family with four year old ex-child due to Riley-Day Syndrome. There is no DNA of this child. Now, the mother has her second pregnancy of 12 weeks gestation. The family wants have a prenatal diagnosis for this pregnancy. In our department, prenatal diognosis for such rare diseases is not carried out. If we can find any center which performs prenatal diagnosis of Riley-Day Syndrome, we can send either amniotic fluid cells or culture or isolated DNA sample. Please contact us urgently from the below address. Address: Akdeniz University Faculty of Medicine Dept. of Medical Biology and Genetics Antalya,Turkey Fax:+90.242.227.44.95 e-mail: esra@hipokrat.med.akdeniz.edu.tr IP: 160.45.191.21 All times are ET (US) next newest topic next oldest topic Administrative Options: Close Topic Archive/Move Delete Topic Hop to: Select a Forum or Archive List of Forums: Biotechnical requests and sources DIAGnostics - Clinical Research (professional requests) Ethical, legal and social implications

14. HUM-MOLGEN Archive: DIAG: 6 Messages 5) rileyday syndrome 6) Vitiligo REPLIES TO PROFESSIONAL REQUESTS SHOULDBE SENT TO THE PERSON MAKING THE REQUEST AND NOT TO HUM-MOLGEN. http://www.hum-molgen.de/mail-archive/2000-Feb/msg00000.html

home genetic news bioinformatics biotechnology ... register for news alert (free) Carlo Gambacorti MD, National Cancer Institute, Milan - Italy: DIAG: 6 messages archive of HUM-MOLGEN mails [Author Prev][Author Next][Thread Prev][Thread Next][ Author Index Topic Index To: HUM-MOLGEN@NIC.SURFNET.NL Subject : DIAG: 6 messages From gambacorti@istitutotumori.mi.it Date : Wed, 9 Feb 2000 12:28:46 +0100 http://www.informatik.uni-rostock.de/HUM-MOLGEN/ Index(es): Author Thread home genetic news ... sitemap Mail converted by MHonArc WWW: Kai Garlipp Frank S. Zollmann HUM-MOLGEN

15. Riley-Day Syndrome rileyday syndrome. Definition An inherited disorder that affects sensory andautonomic nerve function in many body parts/systems. Alternative Names http://www.pennhealth.com/ency/article/001387.htm

Disease Injury Nutrition Poison ... Prevention Riley-Day syndrome Definition: An inherited disorder that affects sensory and autonomic nerve function in many body parts/systems. Alternative Names: Familial dysautonomia; Hereditary sensory and autonomic neuropathy - type III Causes, incidence, and risk factors: Riley-Day syndrome is inherited as an autosomal recessive trait that is found predominantly in the European Jewish population (Ashkenazi Jews). The disease is caused by mutation of the IKBKAP gene on chromosome 9. It is not rare in Ashkenazi Jews where the incidence is estimated to be 1 in 3700 people. Infants with this condition have feeding problems and develop pneumonia caused by inhalation of their formula and food. Episodic vomiting and sweating spells begin following infancy. Young children also have breath-holding spells that produce unconsciousness Insensitivity to pain is a hallmark of Riley-Day syndrome and leads to unnoticed injuries or injuries that might not have occurred had the child sensed discomfort. Children do not feel the normal sensations that generally warn of impending injury such as drying of the eyes, pressure over pressure points, and chronic rubbing and chaffing.

16. Avera Health - Riley-Day Syndrome rileyday syndrome. Definition A person who lives into their 40s is old for a Riley-Daysyndrome patient. Half of patients do not survive past 20 years of age. http://www.avera.org/adam/ency/article/001387.htm

Disease Injury Nutrition Poison ... Chromosomes and DNA Riley-Day syndrome Definition: An inherited disorder that affects sensory and autonomic nerve function in many body parts/systems. Alternative Names: Familial dysautonomia; Hereditary sensory and autonomic neuropathy - type III Causes, incidence, and risk factors: Riley-Day syndrome is inherited as an autosomal recessive trait that is found predominantly in the European Jewish population (Ashkenazi Jews). The disease is caused by mutation of the IKBKAP gene on chromosome 9. It is not rare in Ashkenazi Jews where the incidence is estimated to be 1 in 3700 people. Infants with this condition have feeding problems and develop pneumonia caused by inhalation of their formula and food. Episodic vomiting and sweating spells begin following infancy. Young children also have breath-holding spells that produce unconsciousness Insensitivity to pain is a hallmark of Riley-Day syndrome and leads to unnoticed injuries or injuries that might not have occurred had the child sensed discomfort. Children do not feel the normal sensations that generally warn of impending injury such as drying of the eyes, pressure over pressure points, and chronic rubbing and chaffing.

17. Health Ency.: Disease: Riley-Day Syndrome Ency. home Disease R rileyday syndrome. riley-day syndrome. Ency. home Disease R riley-day syndrome. Please read this Important notice. http://www.austin360.com/shared/health/adam/ency/article/001387.html

SEARCH: The Web Yellow Pages HOME Illustrated Health Encyclopedia Important notice Ency. home Disease R Riley-Day syndrome Overview Symptoms Treatment Prevention Alternative names: Familial dysautonomia; Hereditary sensory and autonomic neuropathy - type III Definition: An inherited disorder that affects sensory and autonomic nerve function in many body parts/systems. Causes and Risks Riley-Day syndrome is inherited as an autosomal recessive trait that is found predominantly in the European Jewish population (Ashkenazi Jews). The disease is caused by mutation of the IKBKAP gene on chromosome 9. It is not rare in Ashkenazi Jews where the incidence is estimated to be 1 in 3700 people. Infants with this condition have feeding problems and develop pneumonia caused by inhalation of their formula and food. Episodic vomiting and sweating spells begin following infancy. Young children also have breath-holding spells that produce unconsciousness Insensitivity to pain is a hallmark of Riley-Day syndrome and leads to unnoticed injuries or injuries that might not have occurred had the child sensed discomfort. Children do not feel the normal sensations that generally warn of impending injury such as drying of the eyes, pressure over pressure points, and chronic rubbing and chaffing.

18. Riley-Day Syndrome rileyday syndrome. Subject riley-day syndrome; From colin.rudolph@chmcc.org(Colin Rudolph); Date Fri, 06 Sep 1996 190410 -0400. http://www.b9.com/dysphagia/1996-September/msg00025.html

19. Riley-Day Syndrom/Familial Dysautonomia accept anything orally? Communication is limited. Thanks! Prev by Daterileyday syndrome; Next by Date valsalva maneuver; Index(es http://www.b9.com/dysphagia/1996-September/msg00024.html

20. RILEY-DAY SYNDROME (FAMILIAL DYSAUTONOMIA) Features Listed For rileyday syndrome (FAMILIAL DYSAUTONOMIA). McKusick223900. Absent or sparse tears; Aseptic necrosis of epiphysis; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?1455

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