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Topic: Ambras syndrome

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Hypertrichosis

List of rare diseases

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	eMedicine - Congenital Hypertrichosis Lanuginosa : Article by Abby Van Voorhees, MD (Site not responding. Last check: 2007-10-20)
		The term Ambras syndrome was coined, and subsequent genetic analyses in 2 patients have revealed an association with a paracentric inversion of chromosome 8q22.
		Individuals with Ambras syndrome are classically described as having hypertrichosis at birth; however, the quantity of the excessive hair may be limited at that time.
		A genetic etiology is proposed for Ambras syndrome.
	www.emedicine.com /derm/topic811.htm (3137 words)

	Genetics: human, medical, and clinical - Генетика человека
		Ambras syndrome: report on two affected siblings with no prior family history.
		Brain-Thyroid-Lung syndrome: a patient with a severe multi-system disorder due to a de novo mutation in the thyroid transcription factor 1 gene.
		Wolfram syndrome in French population: Characterization of novel mutations and polymorphisms in the WFS1 gene
	genetics.rusmedserv.com /arc/?srch=none&msg=2004-12-17 (2330 words)

	Med Bull (Site not responding. Last check: 2007-10-20)
		Herein we describe a case of Ambras syndrome where hypertrichosis is the sole complaint of the patient.
		Herein we describe a case of Ambras syndrome and emphasize the clinical importance of hypertrichosis which is usually neglected in the clinical practice.
		Considering these three syndromes, vellus, rather than lanugo type of hairy growth, diffuse involvement of the body, and the persistance of hypertrichosis beyond age 4 lead us to a diagnosis hypertrichosis universalis congenita (Ambras syndrome).
	www.istanbul.edu.tr /istanbultip/mecmua/medmecmua/med-99-1/09.htm (1210 words)

	Ambras syndrome - Ambras syndrome
		A disease is any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person.
		Sometimes the term is used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function, while in other contexts these may be considered distinguishable categories.
		The subject of systematic classification of diseases is referred to as nosology.
	www.medicalgeo.com /Med-Diseases-Am---As/Ambras-syndrome.html (185 words)

	Medical Dictionary: Ambras syndrome - WrongDiagnosis.com
		Ambras syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Ambras syndrome, or a subtype of Ambras syndrome, affects less than 200,000 people in the US population.
		They list Ambras syndrome as a "rare disease".
	www.wrongdiagnosis.com /medical/ambras_syndrome.htm (243 words)

	Cloning of the breakpoints of a de novo inversion of chromosome 8, inv (8)(p11.2q23.1) in a patient with Ambras syndrome
		Cloning of the breakpoints of a de novo inversion of chromosome 8, inv (8)(p11.2q23.1) in a patient with Ambras syndrome
		Ambras syndrome (AMS) is a unique form of universal congenital hypertrichosis.
		In patients with this syndrome, the whole body is covered with fine long hair, except for areas where normally no hair grows.
	content.karger.com /ProdukteDB/produkte.asp?Doi=79573 (326 words)

	Genetics: human, medical, and clinical - Генетика человека
		A Study of Genetic and Environmental Influences on Maternal and Paternal CBCL Syndrome Scores in a Large Sample of 3-Year-Old Dutch Twins.
		Genetic and environmental contributions to age of onset of alcohol dependence symptoms in male twins.
		Ambras syndrome - report on two affected siblings with no prior family history.
	genetics.rusmedserv.com /arc/?srch=none&msg=2004-11-14 (1596 words)

	Thailand's one-in-10-billion schoolgirl
		Nat has Ambras syndrome, also known as congenital hypertrichosis, an rare genetic abnormality that is characterized by excessive facial and body hair.
		There is no cure for the syndrome, and little is known about the genetic defect, which is not life-threatening.
		Scientists said they believe the condition, to be distinguished from hirsutism, which occurs in women as androgen-induced hair in a male pattern, is linked to an abnormality found on chromosome eight, but even this conclusion is suspect because DNA samples are so rare.
	news.monstersandcritics.com /asiapacific/features/printer_1198849.php (641 words)

	amelia facial dysmorphism (Site not responding. Last check: 2007-10-20)
		ambral syndrome ambras syndrome amegakaryocytic thrombocytopenia amelia cleft lip palate hydrocephalus iris coloboma amelia facial dysmorphism amelia x linked amelo cerebro hypohidrotique...
		Ambras syndrome; Ambrose Philips; Ambulophobia; Ambulophobia; AMC; AMC AMX; Amebiasis; Amegakaryocytic thrombocytopenia; Amelia cleft lip palate hydrocephalus iris colobom; Amelia Earhart; Amelia facial dysmorphism; Amelia...
		Ectro-amelia syndrome associated with an interstitial deletion of 7q.
	www.swb-stahlformguss.de /22797 (217 words)

	hirsutism / hypertrichosis - hypertrichosis lanuginosa
		In addition to congenital hypertrichosis lanuginosa where hair develops all over the body, there are other case reports of individuals with hypertrichosis lanuginosa limited only to the face with the torso, arms, and legs being mostly unaffected.
		Balducci R, Toscano V, Tedeschi B, Mangiantini A, Toscano R, Galasso C, Cianfarani S, Boscherini B. A new case of Ambras syndrome associated with a paracentric inversion (8).
		Baumeister FA, Egger J, Schildhauer MT, Stengel-Rutkowski S. Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and association with a balanced pericentric inversion (8).
	www.keratin.com /ah/ah007.shtml (430 words)

	Ambras syndrome: PAPERBACKS at The Medical Dictionary
		One day, Jean Dominique Bauby, editor-in- chief of French Elle, awoke in a hospital bed, his alert mind trapped within the diving-bell of his paralysed body.
		His vision is of a small town in occupied Germany forced by the Allies to revert to a pre-industrial society.
		His protagonists are a reluctant flsmith who dreams of feats of engineering ingenuity; Ambras, the Dog King, who lives in a derelict mansion inhabited by wild hounds; and Lily, a mysterious figure who digs up rusty weapons.
	www.the-medical-dictionary.com /ambras_syndrome_article_1.htm (918 words)

	ORPHANET® : Base de données sur les maladies rares et les médicaments orphelins
		Acute myeloid leukaemia and myelodysplastic syndromes related to alkylating agent
		Acute myeloid leukaemia and myelodysplastic syndromes related to topoisomerase type II inhibitor
		APECED syndrome (Autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy syndrome)
	www.orpha.net /Pat/GBA.html (269 words)

	DOROTHY WARBURTON (Site not responding. Last check: 2007-10-20)
		For example, several malformation syndromes of previously undetermined origin have been shown to result from microdeletions or duplications, or from previously unrecognizable meiotic and mitotic errors resulting in uniparental disomy.
		Increasing maternal age is the only known factor associated with the frequency of aneuploidy at conception.
		rearrangement of chromosome 8q in a case of Ambras syndrome.
	cpmcnet.columbia.edu /dept/genetics/faculties/Warburton.html (453 words)

	Barbelith Underground > Laboratory > The first of the X-Men is born in Kazakhstan
		Both CHL and Ambras syndrome share the characteristics of excessive and abnormal hair growth with a consistent pattern of areas that are spared.
		It seems like this kid has Ambras syndrome, not yer standard congenital hirsutism.
		The teeth thing seems to make some kind of sense, but the extra nipples is really...
	www.barbelith.com /topic/7464 (974 words)

	Medical Dictionary: Hypertrichosis universalis congenita Ambras type - WrongDiagnosis.com
		Hypertrichosis universalis congenita Ambras type is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).
		This means that Hypertrichosis universalis congenita Ambras type, or a subtype of Hypertrichosis universalis congenita Ambras type, affects less than 200,000 people in the US population.
		Terms that may be interchangeable with Hypertrichosis universalis congenita Ambras type:
	www.wrongdiagnosis.com /medical/hypertrichosis_universalis_congenita_ambras_type.htm (275 words)

	The Sun Online - News: Nong the face of courage
		Now The Sun is calling on its caring readers to raise cash and help her find treatment one day.
		Nong’s hairiness is caused by the genetic problem Ambras Syndrome or Congenital Hypertrichosis Lanuginosa.
		But doctors are testing her to learn more about the condition.
	www.thesun.co.uk /article/0,,2-2004502192,00.html (269 words)

	Hypertrichosis Universalis Congenita
		Ambras syndrome: delineation of a unique hypertrichosis universalis congenita and
		Ambras syndrome or Hypertrichosis Universalis, does it really...
		100050 : AARSKOG SYNDROME 100070 : ABDOMINAL AORTIC ANEURYSM...
	health.cancer-help.org /web/Hypertrichosis_Universalis_Congenita.html (355 words)

	Mirror.co.uk - News - AMAZING COURAGE OF THE WOLFGIRL AGED SIX
		The brave six-year-old's smile lights up the room as she joins in the fun with classmates at her school in Bangkok.
		With the help of loving friends and family Supatra is determined to overcome her rare disorder, called Ambras Syndrome or Congenital Hypertrichosis.
		Affecting fewer than 40 people worldwide, the hair of sufferers won't stop growing on the head and body.
	www.mirror.co.uk /news/tm_objectid=17707111&method=full&siteid=94762&headline=amazing-courage-of-the-wolfgirl-aged-six--name_page.html (133 words)

	Amazon.com: "Quiet Boy": Key Phrase page (Site not responding. Last check: 2007-10-20)
		I c A L L E D H i M the Quiet Boy because he never seemed...
		Darrel was a quiet boy, who played the piano well and liked school.
		Key Phrases in this book: Tourette's Syndrome, Dotty's Donuts, Konrad Lorenz, Father John, Miss Lucy, National Institute of Mental Health, doubting disease, washing rituals, sive disorder
	www.amazon.com /phrase/Quiet-Boy (530 words)

	ambulophobia Stop Anxiety and Fear (Site not responding. Last check: 2007-10-20)
		type 9 Amaurosis fugax Amaurosis hypertrichosis Amaxophobia Ambral syndrome Ambras syndrome Ambulophobia Amebiasis Amegakaryocytic thrombocytopenia Amelia cleft lip palate hydrocephalus iris...
		of Leber Amaurosis hypertrichosis Amaxophobia Amblyopia Ambral syndrome Ambras syndrome Ambulophobia Amegakaryocytic thrombocytopenia Amelia cleft lip palate hydrocephalus iris coloboma Amelia...
		Ä¢ Amathophobia Ä¢ Amaurosis Fugax Ä¢ Amaxophobia Ä¢ Ambiguous Genitalia Ä¢ Amblyopia Ä¢ Ambulophobia Ä¢ Amebiasis Ä¢ Ameloblastoma Ä¢ Amenian Syndrome Ä¢ Amenorrhea Ä¢ Amnesia...
	www.stop-fear.com /Ambulophobia (591 words)

	Biomorph Challenge 3
		Based on the description in the book, and information you find in OMIM, what genetic trait do you think she might have had and why?
		Hypertrichosis universalis (Ambras syndrome) is a good possibility.
		A girl was born in the Canary Islands with fine hair all over--sounds like Akiko.
	biology.kenyon.edu /slonc/bio3/hotpot/hp3/Biomorph3key.htm (1600 words)

	Laser Chest Hair Removal » Blog Archive » Celebrating sisterhood (Site not responding. Last check: 2007-10-20)
		BRAVE schoolgirl Nat Sasuphan is battling to lead a normal life, despite a one-in-10billion condition which covers her face and body in thick hair.
		Nat, six, whose real name is Supatra, has Ambras syndrome, or congenital hypertrichosis.
		It is caused by a genetic defect but is not life-threatening.
	laserchesthairremovalsite.com /blog/345/celebrating-sisterhood (373 words)

	DeutschesFachbuch.de : Dermatology The book covers history taking and skin examination, patch testing and patient ...
		Heritable disorders of connective tissue - Ehlers-Danlos syndrome, pseudoxanthoma elasticum and cutis laxa
		ADAM complex (amniotic band syndrome) 929, 929, 931
		ala nasi, ulcers in trigeminal trophic syndrome 106-107, 107
	www.deutsches-fachbuch.de /reinschauen/b7/0323024092.htm (1634 words)

	Birth Disorder Information Directory - A
		Al Frayh Facharzt Haque Syndrome (Anophthalmia with Hypogonadism and Microcephaly)
		Alagille (Watson) Syndrome (Arteriohepatic Dysplasia, [Hepatofacioneuro]cardiovertebral Syndrome, Watson Miller Syndrome)
		Alport Syndrome (Alport Deafness-Nephropathy, [Deafness/Hearing Loss]-Nephritis Syndrome, Dickinson Syndrome)
	www.bdid.com /defectag.htm (317 words)

	Brave Nat, the wolf girl \| the Mail on Sunday
		Thai girl Supatra Sasuphan, nicknamed Nat, plays with her father Samroeng Sasuphan outside her home in Bangkok.
		The six-year-old has the very rare Ambras syndrome, or Congenital Hypertrichosis - meaning she has excessive hair covering her face and parts of her body.
		There are fewer than 40 cases documented worldwide of people with this genetic condition after it was first described in Austria in 1648.
	www.mailonsunday.co.uk /pages/dmstandard/article.html?in_article_id=404197&in_page_id=1766 (306 words)

	Pubblicazioni scientifiche
		Balducci R, Toscano V, Tedeschi B, Mangiantini A, Galasso C, Cianfarani S, Boscherini B. A new case of Ambras syndrome associated with a paracentric inversion (8) (q12:q22).
		Cianfarani S. Growth hormone therapy in Noonan syndrome.
		Tadin M, Braverman E, Cianfarani S, Sobrino AJ,m Levy B, Christiano AM, Warburton D. Complex cytogenetic rearrrangement of chromosome 8q in a case of Ambras syndrome.
	endoped.med.uniroma2.it /english/pubblicazioni.html (578 words)

	Boing Boing: Thai girl with hypertrichosis
		Last month, I linked to Dr. Jan Bondeson's recent essay about people who suffered from hypertrichosis aka "Werewolf syndrome." Seen here is Supatra "Nat" Sasuphan, a six-year-old Thai girl who has congenital hypertrichosis, also called Ambras syndrome.
		The photo snip comes from a short article in The Mail On Sunday.
		(Nat's mother) Sompol said she hopes the excessive hair will start to fall out when Nat becomes an adult, as has reportedly happened with other Ambras syndrome patients.
	www.boingboing.net /2006/09/13/thai_girl_with_hyper.html (292 words)

	Oblivious Daze
		I'm sure it will be as fun and addicting as the original.
		A four year old girl in Thailand has a genetic problem called Congenital Hypertrichosis Lanuginosa or Ambras Syndrome.
		It's a condition that makes her look like a wolf.
	www.yoda.com /stimpdawg/2006/2004_11_01_index.html (1820 words)

	Fostering Research on Rare Diseases in Eastern European Countries : Poster session
		Title: Trace elements selenium and chromium are useful to tretment of metabolic syndrome
		Title: DiGeorge syndrome in patients hospitalized in Department of Pediatric Cardiology in Katowice
		Title: Ambras syndrome, a special form of congenital hypertrichosis: report of two affected sisters
	www.conf2006.raredis.org /posters.php (1695 words)

	OMIM Update List for March, 2004
		Clinical Synopsis for 123790 CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON
		Clinical Synopsis for 163950 NOONAN SYNDROME 1; NS1
		Clinical Synopsis for 312860 SCOTT CRANIODIGITAL SYNDROME WITH MENTAL RETARDATION
	www.ncbi.nlm.nih.gov /Omim/dispmonthly.cgi?3.2004 (2183 words)

	Cornelia De Lange Syndrome Photos (Site not responding. Last check: 2007-10-20)
		Misspellings to find cornelia de lange syndrome photos
		cornelia ccornelia coornelia corrnelia cornnelia corneelia cornellia corneliia corneliaa cornelia de dde dee de lange llange laange lannge langge langee lange syndrome ssyndrome syyndrome synndrome synddrome syndrrome syndroome syndromme syndromee syndrome photos pphotos phhotos phootos phottos photoos photoss photos
		cornelia ocrnelia cronelia conrelia corenlia cornleia corneila cornelai cornelia cornelia de ed de de lange alnge lnage lagne laneg lange lange syndrome ysndrome snydrome sydnrome synrdome syndorme syndrmoe syndroem syndrome syndrome photos hpotos pohtos phtoos phoots photso photos photos
	www.dog-syndrome.info /cornelia-de-lange-syndrome-photos.htm (138 words)

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