- NORD - National Organization for Rare Disorders, Inc.
“Rare Disease Database” http://www.rarediseases.org/search/rdbsearch.html
- National Institute of Neurological Disorders and Stroke (NINDS)
http://www.ninds.nih.gov/
-
Search Jablonski's Multiple Congenital Anomaly-Mental Retardation (MCA-MR) Syndromes Database
http://www.nlm.nih.gov/mesh/jablonski/syndrome_db.html
-
National Library of Medicine / Multiple Congenital Anomaly/Mental Retardation Syndromes /
Syndrome DB - Table of Contents
http://www.nlm.nih.gov/mesh/jablonski/syndrome_toc/toc_a.html
- Family Village Library..... Family Village http://www.familyvillage.wisc.edu/index.htmlx
- Our-Kids Website http://www.our-kids.org/
- c.f. GeneTests Home Page http://www.geneclinics.org/
- SERI - Special Education Resources on the Internet http://seriweb.com/
- Kids Move - Worldwide Education and Awareness for Children's Movement Disorders http://www.wemove.org/kidsmove/
- www.whonamedit.com http://www.whonamedit.com/
- Google JAPAN http://www.google.co.jp/
Google http://www.google.com/
Google-Scholar http://scholar.google.com/
- Special Child For Parents of Children with Disabilities http://www.specialchild.com/
For Parents and Caregivers of Children with Special Needs
- PatientsLikeMe Patients Helping Patients Live Better Every Day
http://www.patientslikeme.com/
- AAAAA
- ..... ACC (Agenesis of the Corpus Callosum) Network
http://www.umaine.edu/edhd/research/accnetwork.htm
- ..... Alexander disease >>> United Leukodystrophy Foundation http://www.ulf.org/
- ..... The ALS Therapy Development Institute ALS TDI http://www.als.net/
- ..... Alternating Hemiplegia of Childhood http://www.ahckids.org/
- ..... Amniotic Band Syndrome - ABS is a set of congenital birth defects
http://www.amnioticbandsyndrome.com/
Constriction band syndrome (also referred to as "amniotic band syndrome")
http://www.thefetus.net/page.php?id=405
Synonyms: ADAM complex (amniotic deformities, adhesion, mutilation), amniotic band sequence, amniotic disruption complex, annular grooves, congenital amputation, congenital constricting bands, Streeter bands, transverse terminal defects of limb1, aberrant tissue bands, amniochorionic mesoblastic fibrous strings, amniotic bands2.
- ..... Angelman Syndrome (Happy Puppet Syndrome) geneclinics
- ..... Angelman Syndrome Foundation (ASF) http://www.angelman.org/
- ..... Angelman Syndrome Information for Families and Professionals http://asclepius.com/angel/
- BBBBB
- .....
the Barth Syndrome Web Site
http://www.barthsyndrome.org/
- CCCCC
- .....
The CDG Family Network Web Page http://www.cdgs.com/
- .....
Celiac Disease Foundation http://www.celiac.org/
c.f. National Digestive Diseases Information Clearinghouse Celiac Disease http://digestive.niddk.nih.gov/ddiseases/pubs/celiac/
- .....
Cockayne Syndrome Homepage
http://www.cockayne-syndrome.org/
- .....
The Coffin-Lowry Syndrome Foundation (CLSF)
http://clsf.info/
- .....
Congenital Central Hypoventilation Syndrome (CCHS) Family Network
http://www.cchsnetwork.org/
- .....
Cornelia de Lange Syndrome CdLS USA Foundation http://www.cdlsusa.org/
- .....
CdLS World http://www.cdlsworld.org/
- .....
Coma Waiting Page http://www.waiting.com/
- .....
Congenital Adrenal Hyperplasia dot Com http://congenitaladrenalhyperplasia.org/
- .....
Congenital Central Hypoventilation Syndrome Family Network
http://www.cchsnetwork.org/
the phox2b gene / the Myth of Ondine, the Ondine curse, Ondine's curse
- .....
- .....
International Costello Syndrome support Group -Welcome Page
＝Costello Syndrome COSTELLO KIDS http://www.costellokids.org.uk/ OMIM 218040
- .....
CRASH syndrome ..... MASA Syndrome Infos http://home.arcor.de/silvieanna/English/ INFO ON THE MASA (CRASH) SYNDROME
- ..... Crohn's & Colitis Foundation of America CCFA http://www.ccfa.org/
- ..... Cystic Fibrosis Foundation http://www.cff.org/
- DDDDD
- .....
Degos Disease ... the Degos Patients’Support Network website
http://www.degosdisease.com/
Degos R. Malignant atrophying papulosis; fatal cutaneo-intestinal syndrome. Ann Dermatol Syphiligr (Paris) 1952;79:410-417.
NEJM 2006;355(24):2575-2584; Case 38-2006 - A 5-Year-Old Boy with Headache and Abdominal Pain. V. S. Caviness Jr. and Others ; http://content.nejm.org/cgi/content/full/355/24/2575 ;
- ..... Doose Syndrome myoclonic astatic epilepsy (Doose Syndrome)
Myoclonic-Astatic Epilepsy (MAE) or Doose Syndrome http://www.doosesyndrome.com/
- .....
Down Syndrome Research Foundation (DSRF)
http://www.dsrf.org/ Down Syndrome Quarterly
National Down Syndrome Society
http://www.ndss.org/
The Down Syndrome WWW Page http://jdsn.gr.jp/
..... World Down Syndrome Day 2006 http://www.worlddownsyndromeday.org/
..... Down Syndrome International (DSI) 世界ダウン症連合 http://www.down-syndrome-int.org/
"Down Syndrome International (DSI) has officially earmarked 21 March as World Down Syndrome Day (WDSD). The date was chosen to signify the uniqueness of Down syndrome in the triplication (trisomy) of the 21st chromosome and is used synonymously with Down syndrome. ・・・"
Health Care Guidelines For Individuals With Down Syndrome: 1999 Revision
Reprinted with permission from Down Syndrome Quarterly, Volume 4, Number 3, September, 1999
Edited by William I. Cohen, M.D. for the Down Syndrome Medical Interest Group (DSMIG)
http://www.ndsccenter.org/resources/healthcare.pdf
.....National Down Syndrome Congress
http://www.ndsccenter.org/
http://www.ds-health.com/health99.htm
http://www.dsrf.co.uk/Health_Issues/Health_guidelines1.htm
Health Supervision for Children With Down Syndrome -- Committee on Genetics 107 (2) 442 -- AAP Policy
http://aappolicy.aappublications.org/cgi/content/full/pediatrics;107/2/442
c.f. http://www.downsyn.com/guidelines/healthcare.html
.....Down Syndrome For Parents http://www.downsyn.com/
Growth Charts for Children with Down Syndrome
http://www.growthcharts.com/
Down Syndrome Visions for the 21st century : William I. Cohen, Lynn Nadel, Myra E. Madnick (eds) 2002 by Wiley-Liss, Inc.
http://www3.interscience.wiley.com/cgi-bin/bookhome/104085683/
- .....
Dystonia Support http://www.dystoniasupport.org/
- EEEEE
- .....
Ehlers-Danlos National Foundation EDNF http://www.ednf.org/
A. E. Sareli et al. What's the Connection? - A 26-year-old white man presented to our referral hospital with a 1-month history of persistent cough productive of white sputum, which was occasionally tinged with blood
N Engl J Med 2008,358(6):626-632 February 7, 2008
http://content.nejm.org/cgi/content/extract/358/6/626
http://content.nejm.org/cgi/reprint/358/6/626.pdf
- .....
The Encephalitis Society http://www.encephalitis.info/
- ..... Epilepsy Foundation-Not Another Moment Lost to Seizures
http://www.epilepsyfoundation.org/
- c.f. ..... International League Against Epilepsy
http://www.ilae-epilepsy.org/
http://www.epilepsy.org/
- .....
The Erythromelalgia Association http://www.erythromelalgia.org/
- .....
exostosis >>>>> Tricho-Rhino-Phalangeal Syndromes and Hereditary Multiple Exostosis http://wimp.nsm.uh.edu/eight.html
The University of Houston TRPS and EXT Homepage
- FFFFF
- .....
Fabry Support & Information Group http://www.fabry.org/
- .....
International Fibrodysplasia Ossificans Progressiva Association IFOPA
http://www.ifopa.org/
Fibrodysplasia Ossificans Progressiva (FOP)
- .....
Fibromuscular Dysplasia Society of America Website http://www.fmdsa.org/
- ..... FOP >> IFOPA http://www.ifopa.org/ Japanese - Index -
The International FOP Association, or IFOPA Fibrodysplasia Ossificans Progressiva (FOP)
- ..... FRAXA Research Foundation - Fragile X
http://www.fraxa.org/
- National FragileX Foundation
http://www.nfxf.org/
- GGGGG
- .....
National Gaucher Foundation http://www.gaucherdisease.org/
- ..... IOGA (International Organization of Glutaric Acidemia bringing resources to those affected with GA1) http://www.glutaricacidemia.org/
- HHHHH
- ..... Happy Puppet Syndrome >>>>> Angelman Syndrome
- ..... Histiocytosis Association of America http://www.histio.org/association/index.shtml
- ..... holoprosencephaly The Carter Centers for Brain Research in Holoprosencephaly and Related Malformations http://www.stanford.edu/group/hpe/
- ..... Hutchinson-Gilford Progeria Syndrome Network http://www.hgps.net/
- IIIII
- ..... Incontinentia Pigmenti International Foundation http://imgen.bcm.tmc.edu/IPIF/
- ..... Inborn errors of metabolism Organic Acidemia Association http://www.oaanews.org/
- ..... International Rett Syndrome Association http://www.rettsyndrome.org/
- ..... IOGA (International Organization of Glutaric Acidemia bringing resources to those affected with GA1) http://www.glutaricacidemia.org/
- ..... Foundation for Ichthyosis and Related Skin Types
http://www.scalyskin.org/
- JJJJJ
- ..... Joubert Syndrome Foundation & Related Cerebellar Disorders
http://www.joubertsyndrome.org/
- ..... Juvenile Diabetes Research Foundation International
http://www.jdrf.org/
- KKKKK
- ..... Give Kids The World http://www.gktw.org/
- ..... Kid's Energy Save a kid's life Top page http://www.kids-energy.org/
- ..... Kids Move - Worldwide Education and Awareness for Children's Movement Disorders http://www.wemove.org/kidsmove/
- ..... Kleine-Levin Syndrome Foundation Inc. -
http://www.kleinelevin.com/
c.f. The National Sleep Foundation http://www.sleepfoundation.org/
Kleine-Levin syndrome: a systematic review of 186 cases in the literature, Arnulf,I,et al.
http://brain.oxfordjournals.org/cgi/reprint/awh620v1.pdf
- .....
Kniest syndrome
Kniest SED Group page http://www.ksginfor.org/
c.f. Little People of America LPA Online
http://www.lpaonline.org/
c.f. LPA Medical Resource Center -- Dwarfism Types
http://medical.lpaonline.org/dwarfism_types/
- LLLLL
- .....
United Leukodystrophy Foundation http://www.ulf.org/
- ..... The Lissencephaly Network http://www.lissencephaly.org/
- The Lissencephaly Network http://www.ghg.net/lissnet/index.htm
- .....
Little People of America LPA Online
http://www.lpaonline.org/
- ..... Lowe Syndrome Association http://www.lowesyndrome.org/ also called the oculo-cerebro-renal (OCRL) syndrome
600 Mile Walk http://www.600milewalk.org/
- .....
Global Organisation for Lysosomal Diseases (GOLD) http://www.interactivhealth.com/gold/
- MMMMM
- ..... Make-A-Wish Foundation - Homepage http://www.wish.org/
- .....
The National Marfan Foundation Marfan Syndrome information - causes, treatment, support, management and research
http://www.marfan.org/nmf/
About Marfan Syndrome >> Dianosis >>
Diagnostic Criteria / Marfan Syndrome Checklist / .....
1996 REVISED CRITERIA FOR THE MARFAN SYNDROME
Revised Diagnositic Criteria for the Marfan syndrome. De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE Am J Med Genet 1996 62:417-426
- ..... Marfan Association UK
http://marfan.org.uk/
John C S Dean Marfan syndrome: clinical diagnosis and management
Eur J Hum Genet 2007,15(7):724-733; May 9, 2007
http://www.nature.com/ejhg/journal/v15/n7/abs/5201851a.html
- .....
MASA Syndrome Infos http://home.arcor.de/silvieanna/English/ INFO ON THE MASA (CRASH) SYNDROME
- ..... The MSUD (Maple Syrup Urine Disease) Family Support Group http://www.msud-support.org/
- Menkes disease or "Menkes Kinky Hair Syndrome"
- ..... United Mitochondrial Disease Foundation http://www.umdf.org/
c.f. Mitochondrial Disorders http://www.neuro.wustl.edu/neuromuscular/mitosyn.html
- .....
National MPS Society http://www.mpssociety.org/
mucopolysaccharidoses (MPS) and mucolipidoses (ML)
- .....
Maffucci Syndrome マフィッチ症候群
- .....
Menkes disease
.....S. G. Kaler, et al. Neonatal Diagnosis and Treatment of Menkes Disease
N Enlg J Med 2008,358(6):605-614 February 7, 2008
http://content.nejm.org/cgi/content/abstract/358/6/605
- .....
MOEBIUS SYNDROME SUPPORT & RESOURCE SITE http://www.moebius1.org/
- .....
the Moebius Syndrome Foundation http://www.moebiussyndrome.com/
- .....
National MS Society
http://www.nationalmssociety.org/
..... MS Society U.K.
http://www.mssociety.org.uk/
- .....
The Myelin Project http://www.myelin.org/ .....
Hope for Multiple Sclerosis, the Leukodystrophies, and other Myelin Disorders
- .....
National MS Society http://www.nationalmssociety.org/
National MS Society Pediatric (Childhood) MS http://www.nationalmssociety.org/Pediatric_and_Childhood.asp
- NNNNN
- ..... The National Neurofibromatosis Foundation - NF (USA) http://neurofibromatosis.org/
- ..... Neurofibromatosis, Inc. http://www.nfinc.org/
- ..... the National Coalition for PKU & Allied Disorders http://www.pku-allieddisorders.org/ >>> Support Groups & Links
- .....
NICHCY the National Dissemination Center for Children with Disabilities http://www.nichcy.org/
- .....
National Gaucher Foundation http://www.gaucherdisease.org/
- .....
NBIA Disorders Association http://www.nbiadisorders.org/,
formerly known as HSSA Hallervorden-Spatz Syndrome Association
- .....
NORD - National Organization for Rare Disorders, Inc. http://www.rarediseases.org/
- .....
NBIA Disorders Association http://www.hssa.org/
Formerly Hallervorden-Spatz Syndrome Association
Neurodegeneration with Brain Iron Accumulation, or NBIA (formerly called Hallervorden-Spatz syndrome), Pantothenate kinase-associated neurodegeneration (PKAN) is a subset of NBIA;
- ..... The National Neurofibromatosis Foundation - NF (USA) http://neurofibromatosis.org/
- ..... neurofibromatosis
ninds
NF1 geneclinics
- ..... The National Neurofibromatosis Foundation - NF http://www.nf.org/
- ..... THE NEUROFIBROMATOSIS, INC. http://www.nfinc.org/
- ..... The NF2Crew - NF2 Support http://www.nf2crew.org/
- ..... The Children's Tumor Foundation Ending Neurofibromatosis Through Research http://www.ctf.org/
- ..... c.f. NINDS -National Institute of Neurological Disorders and Stroke http://www.ninds.nih.gov/
- ..... Neurofibromatosis, Inc. http://www.nfinc.org/nf1.shtml
- ..... Understanding NF1 http://www.understandingnf1.org/
the NF-1 body image
- .....
National Niemann-Pick Disease Foundation http://www.nnpdf.org/
- .....
NORD - National Organization for Rare Disorders, Inc. http://www.rarediseases.org/
- .....
National Tay-Sachs & Allied Diseases Association http://www.ntsad.org/
- neuro-cardio-facial-cutaneous syndromes
- OOOOO
- ..... Inborn errors of metabolism Organic Acidemia Association http://www.oaanews.org/
- PPPPP
- .....
The National Parkinson Foundation http://www.parkinson.org/
- .....
Parkinson's Information http://www.parkinsonsinfo.com/
- .....
Periodic Paralysis News Desk http://hkpp.org/
Resources for the Periodic Paralysis Community since 1995
- .....
Paroxysmal kinesigenic dystonia (PKD)
...Dystonia Medical Research Foundation
http://www.dystonia-foundation.org/
c.f. WE MOVE - Dyskinesias (Paroxysmal) - Clinical Features and Classification
http://www.wemove.org/pdys/pdys_cc.html
- .....
PKD Foundation PKD Foundation
http://www.pkdcure.org/
Polycystic Kidney Disease (PKD)
- ..... Prader-Willi Syndrome geneclinics
- ..... International Prader-Willi Syndrome Organization
http://www.ipwso.org/
- .....
Prader-Willi Syndrome Association (USA) http://www.pwsausa.org/
- .....
The Progeria Research Foundation http://www.progeriaresearch.org/
- The Progeria Project Foundation http://www.progeriaproject.com/
- .....
Hutchinson-Gilford Progeria Syndrome Network http://www.hgps.net/
Phenotype and Course of Hutchinson-Gilford Progeria Syndrome , N Engl J Med 2008,358(6):592-604 February 7, 2008
http://content.nejm.org/cgi/content/extract/358/6/592
http://content.nejm.org/cgi/reprint/358/6/592.pdf
- .......... Werner Syndrome
- QQQQQ
- RRRRR
- .....
NORD - National Organization for Rare Disorders, Inc. http://www.rarediseases.org/
- ..... International Rett Syndrome Association http://www.rettsyndrome.org/
- ..... Rett Syndrome Research Foundation http://www.rsrf.org/
- ..... Rett Syndrome Association UK http://www.rettsyndrome.org.uk/
- .....
Reflex Sympathetic Dystrophy (RSD), Complex Regional Pain Syndrome (CRPS) - International Research Foundation for Reflex Sympathetic Dystrophy
http://www.rsdfoundation.org/
- SSSSS
- .....
Sibling Support Project Home Page http://www.thearc.org/siblingsupport/
“The Sibling Support Project is a national program dedicated to the interests of brothers and sisters of people with special health and developmental needs. The Project's primary goal is to increase the availability of peer support and education opportunities for brothers and sisters of people with special health and developmental needs.”
c.f. → siblings
- .... Spina Bifida Association
http://www.sbaa.org/
- .... The International Federation for Spina Bifida and Hydrocephalus (IF)
http://www.ifglobal.org/
- ..... Spinal Cord Injury - Paraplegic & Quadriplegic, Tetraplegic Information
http://www.apparelyzed.com/
- .....
Spinal Muscular Atrophy - Families of SMA Home Page http://www.fsma.org/
- .....
Smith-Lemli-Opitz Syndrome Smith-Lemli-Opitz-RSH Foundation
http://www.smithlemliopitz.org/
GeneReviews Smith-Lemli-Opitz Syndrome http://www.geneclinics.org/profiles/slo/
-
..... Smith-Magenis syndrome (SMS) http://www.specialchild.com/archives/dz-027.html
..... PRISMS - Smith-Magenis Syndrome Support Group http://www.prisms.org/start.htm
.... The Smith-Magenis Syndrome Foundation UK http://www.smith-magenis.co.uk/
- .....
StrokeHelp.com - A Resource Center for Clinicians, Families and Survivors of Stroke - hemiplegia, rehabilitation http://www.iceseminars.com/
- .....
Sturge-Weber Foundation http://www.sturge-weber.com/
- ..... Sudden Infant Death Syndrome and Other Infant Death (SIDS/OID) Information Web Site http://www.sids-network.org/
- .....
American Synesthesia Association http://www.multimediaplace.com/asa/
.....
UK Synaesthesia Association http://www.uksynaesthesia.com/
.....
c.f. Synesthesia - Dr. Hugo Museums of the Mind http://www.doctorhugo.org/synaesthesia/
- ..... American Syringomyelia Alliance Project Inc, Research, Education and Support for Chiari Malformation and Syringomyelia http://www.asap.org/
- TTTTT
- .....
National Tay-Sachs & Allied Diseases Association http://www.ntsad.org/
- .....
Late Onset Tay-Sachs Foundation http://www.lotsf.org/
- ..... Through the Looking Glass http://www.lookingglass.org/
Through the Looking Glass (TLG) is a nationally recognized center that has pioneered research, training, and services for families in which a child, parent or grandparent has a disability or medical issue. ・・・
- ..... Tourette Syndrome Association, Inc. http://www.tsa-usa.org/
- ..... Treacher-Collins syndorme http://www.treachercollinsfnd.org/
- ..... Support Organization for Trisomy 18, 13 and other Related Disorders. http://www.trisomy.org/
- .....
Tricho-Rhino-Phalangeal Syndromes and Hereditary Multiple Exostosis http://wimp.nsm.uh.edu/eight.html
The University of Houston TRPS and EXT Homepage
- ..... Trisomy 18 Support - families connecting, sharing, and caring. http://www.trisomy18support.org/
- ..... T18, Trisomy 18, Edwards syndrome, Make a Memorial Site http://www.t18moms.com/
- ..... Tuberous Sclerosis Alliance
http://www.tsalliance.org/
- ..... TSI (Tuberous Sclerosis International)
http://www.stsn.nl/tsi/tsi.htm
Website van de Stichting Tubereuze Sclerosis Nederland (STSN) Tuberous Sclerosis Complex TSC Hersenen Epilepsie Nieren Longen H http://www.stsn.nl/index.htm
- UUUUU
- ..... National Urea Cycle Disorders Foundation http://www.nucdf.org/
- .....
United Leukodystrophy Foundation http://www.ulf.org/
- ..... United Mitochondrial Disease Foundation http://www.umdf.org/
- VVVVVV
- ..... Vent Users' Support Page http://www.eskimo.com/~jlubin/disabled/vent/
- WWWWW
- .....
The Williams Syndrome Association http://www.williams-syndrome.org/
The Williams Syndrome Foundation (WSF) http://www.wsf.org/
- .....
The Wilson's Disease Association International http://www.wilsonsdisease.org/
- XXXXX
- ..... Xeroderma Pigmentosum Society, Inc. http://www.xps.org/
- YYYYY
- ZZZZZ
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