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         Menkes Syndrome:     more detail
  1. Menkes Syndrome - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-18
  2. Menkes syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Terri, MS, CGC Knutel, 2005
  3. The Angry Puppet Syndrome by John H. Menkes, 1999-09

21. MedlinePlus Medical Encyclopedia Menkes Syndrome
menkes syndrome is an inherited disorder that results in problems in multiple parts of the body due to cells not having enough copper.
http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

22. Menkes Syndrome Definition - Medical Dictionary Definitions Of Popular Medical T
Online Medical Dictionary and glossary with medical definitions.
http://www.medterms.com/script/main/art.asp?articlekey=11653&rd=1

23. Dr. Koop - Menkes Syndrome
menkes syndrome is an inherited disorder that results in problems in multipleparts of the body due to cells not having enough copper.
http://www.drkoop.com/ency/93/001160.html
Home Health Reference Menkes syndrome Jul 29, 2005 Search: Dr.Koop MEDLINE Diseases Symptoms Procedures Natural Medicine ... Drug Library
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Menkes syndrome
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Menkes syndrome
Definition: Menkes syndrome is an inherited disorder that results in problems in multiple parts of the body due to cells not having enough copper.
Alternative Names: Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease
Causes, incidence, and risk factors: Menkes syndrome is inherited as an X-linked recessive disorder. The disorder is related to deficient levels of copper in the cells. Symptoms include progressive mental deterioration, kinked, twisted and brittle hair, and skeletal changes. Death usually occurs in the first few years of life. About 1 in 300,000 individuals are affected.
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24. MedlinePlus Medical Encyclopedia: Menkes Syndrome
menkes syndrome is an inherited disorder that results in problems in multipleparts of menkes syndrome is inherited as an Xlinked recessive disorder.
http://www.nlm.nih.gov/medlineplus/ency/article/001160.htm
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Medical Encyclopedia
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Menkes syndrome
Contents of this page:
Illustrations
Hypotonia Alternative names Return to top Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease Definition Return to top Menkes syndrome is an inherited disorder that results in problems in multiple parts of the body due to cells not having enough copper. Causes, incidence, and risk factors Return to top Menkes syndrome is inherited as an X-linked recessive disorder. The disorder is related to deficient levels of copper in the cells. Symptoms include progressive mental deterioration, kinked, twisted and brittle hair, and skeletal changes. Death usually occurs in the first few years of life. About 1 in 300,000 individuals are affected. Symptoms Return to top
  • Pudgy, rosy cheeks Lack of muscle tone, floppiness ( hypotonia Irritability Seizures Brittle, kinky hair

25. Menkes Syndrome
Syndrome, menkes syndrome. Synonyms, Menkes disease. Menkes kinky hair syndrome (MKHS).congenital hypocupraemia syndrome. copper transport disease
http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome422.html
Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes
View the Full Record
Syndrome Menkes syndrome Synonyms Menkes disease Menkes kinky hair syndrome (MKHS) congenital hypocupraemia syndrome copper transport disease kinky hair syndrome (KHS) sex-linked neurodegenerative disease with monilethrix steely hair syndrome trichopoliodystrophy X-linked copper malabsorption Summary An inherited defect of intestinal copper absorption in males It is characterized by sparse, stubby, twisted, and friable, and colorless hair and irregular eyebrows associated with retarded mental and physical development, focal cerebral and cerebellar degeneration, cherubic expressionless facies, and micrognathia. The course is usually progressively fatal. Major Features Head and neck: Cherubic expressionless facies with pudgy pale cheeks, persistent wormian bones, and occasional microcephaly, frontal bossing, and skull asymmetry. Eyes: Dysplastic and pale optic disks, horizontal nystagmus, episodic rapid vertical eye movement, abnormal electroretinogram, and downslanting palpebral fissures. Nose: Long nose.

26. ► Menkes Syndrome
A medical encycopedia article on the topic menkes syndrome.
http://www.umm.edu/ency/article/001160.htm
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Menkes syndrome
Overview Symptoms Treatment Prevention Definition: An inherited disorder that results in problems in multiple parts of the body due to cells not having enough copper.
Alternative Names: Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease
Causes, incidence, and risk factors: Menkes syndrome is inherited as an X-linked recessive disorder. The disorder is related to deficient levels of copper availability to cells. Symptoms include progressive mental deterioration, kinked, twisted and brittle hair, as well as skeletal changes. Death usually occurs in the first few years of life. About 1 in 300,000 individuals are affected.
Hypotonia
Review Date: 11/12/2001
Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

27. ► Menkes Syndrome
A medical encycopedia article on the topic menkes syndrome.
http://www.umm.edu/ency/article/001160sym.htm
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Menkes syndrome
Overview Symptoms Treatment Prevention Alternative Names: Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease
Symptoms:
Signs and tests: There is often a history of Menkes syndrome in a male relative. Signs include slow growth in the womb, abnormally low body temperature, bleeding in the brain and abnormal appearance of the hair under the microscope. Males will have 100% of their hairs show abnormal structure but carrier-females may show only half the hairs to be abnormal.
Tests:
  • X-ray of the skeleton or X-ray of the skull may show abnormal bone appearance (Wormian bones and metaphyseal widening) serum copper level may be low copper level in cultured skin cells (fibroblasts) is up to 5 times elevated serum ceruloplasmin level may be low microscope examination of the hair may show breaks at regular intervals plasma amino acids may show elevated glutamate genetic testing may show mutation in the ATP7A gene

Hypotonia
Review Date: 11/12/2001
Reviewed By: David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.

28. Menkes Syndrome
menkes syndrome is inherited as an Xlinked recessive disorder. The No trulyeffective treatment is available for menkes syndrome.
http://www.geocities.com/Heartland/Grove/1590/menkes.html
Menkes Syndrome
Alternative Names
steely hair disease; Menkes kinky hair syndrome; kinky hair disease
Definition
An inherited disorder that results in reduced absorption of copper
from the intestines.
Causes, incidence, and risk factors
Menkes syndrome is inherited as an X-linked recessive disorder. The
symptom is related to deficient levels of available copper.
Symptoms include progressive mental deterioration, kinked or twisted
brittle hair, and skeletal changes. Death usually occurs in the first few years of life. Symptoms pudgy, rosy cheeks floppy baby (hypotonia) irritability seizures brittle, kinky hair feeding difficulties low body temperature bone spurs Signs There is often a family history of Menkes syndrome. Tests: X-ray of the skeleton may show abnormal bone appearance (Wormian bones and metaphyseal widening) X-ray of the skull serum copper level serum ceruloplasmin level. Treatment No truly effective treatment is available for Menkes syndrome. Injection of copper has been used with mixed results. Present therapy consists of: copper acetate administered into a vein (intravenously) subcutaneous (injected under the skin) copper histidinate Complications Death usually occurs in the first few years of life.

29. Menkes Syndrome Medical Information
menkes syndrome Information from Drugs.com. menkes syndrome is an inheriteddisorder that results in problems in multiple parts of the body due to cells
http://www.drugs.com/enc/menkes_syndrome.html

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Menkes syndrome
Injury Disease Nutrition Poison ... Hypotonia
Menkes syndrome
Definition
Menkes syndrome is an inherited disorder that results in problems in multiple parts of the body due to cells not having enough copper.
Alternative Names
Steely hair disease; Menkes kinky hair syndrome; Kinky hair disease
Causes
Menkes syndrome is inherited as an X-linked recessive disorder. The disorder is related to deficient levels of copper in the cells. Symptoms include progressive mental deterioration, kinked, twisted and brittle hair, and skeletal changes. Death usually occurs in the first few years of life. About 1 in 300,000 individuals are affected.
Symptoms
  • Pudgy, rosy cheeks

30. MyDNA.com - Menkes Syndrome
myDNA is a consumer focused health, genetics, and genomics information provideroffering disease condition information, health wellness tips,
http://www.mydna.com/genes/genetics/disorders/disease/skin/menkes.html
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31. Information About Menkes Syndrome
menkes syndrome is an inherited disorder that results in problems in multiple menkes syndrome is also called Kinky Hair Disease, Menkes Kinky Hair
http://www.mamashealth.com/syndrome/menkes.asp

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What is Menkes Syndrome?
Menkes syndrome is an inherited disorder that results in problems in multiple parts of the body due to cells not having enough copper. Consult with your health care provider if you or your partner have a family history of Menkes syndrome and you plan to have children. A baby with this condition will often show symptoms early in infancy. Menkes syndrome is also called: Kinky Hair Disease, Menkes Kinky Hair Syndrome, Steely Hair Disease. What Causes Menkes Syndrome? Menkes syndrome is inherited as an X-linked recessive disorder. The disorder is related to deficient levels of copper in the cells. Symptoms of Menkes Syndrome? Some of the most common symptoms of Menkes syndrome are:
  • Pudgy, rosy cheeks Hypotonia Irritability Seizures Brittle, kinky hair Feeding difficulties Low body temperature Bone spurs
Complications of Menkes Syndrome? The most common complications of Menkes syndrome are seizures, and abnormally light pigmentation of the skin and hair. Unfortunately, death usually occurs in the first few years of life.

32. Short Description Of Cell Lines. Pathology: Menkes Syndrome #309400
Pathology menkes syndrome 309400 OMIM record. By selecting the cell linename, you will receive the detailed description of the cell line
http://www.biotech.ist.unige.it/cldb/pat113.html
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Short description of cell lines.
Pathology: Menkes syndrome
OMIM record
By selecting the cell line name , you will receive the detailed description of the cell line
By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines
You can search any term of the list by using the 'Find' utility of your browser
human, Caucasian
amnion GEIMM
human, Caucasian
...
By Beatrice...

33. Menkes Syndrome By Michel Perron
menkes syndrome has been found to be a genetically inherited disorder that The mRNA in two individuals with menkes syndrome have been found by Tumer et
http://www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997 Case Studies/M. Perron
Menkes Syndrome
by Michel Perron
enzyme condition due to decreased copper levels
lysyl oxidase defect in elastin and collagen crosslinks
leading to arterial abnormalities
ascorbic acid oxidase skeletal defects similar to scurvy due to
inadequate vitamin C production
tyrosinase depigmentation of skin and hair
cytochrome C oxidase hypothermia
enzymes that form kinky hair
disulfide bonds in keritin Due to decreased activity of copper based enzymes several phenotypes are common in individuals with Menkes syndrome. Most notably individuals develop whitish hair due to pili torti, monilethrix and trichorrhexis nodosa. Gradual cerebral and cerebellar degredation, major seizures, aberrant tortuous arteries, skeletal abnormalities and premature death are among the most serious effects of Menkes syndrome. There is currently no adaquate treatment for this genetic disease although it has been discovered that copper histidinate injections, if administered early enough, may prevent cerebral deterioration-due to its ability to cross the blood brain barrier- and hair discoloration and abnormalities. In the case with Mertha and Eliot D. son, Rick, a clear distinct link exists between the phenotypes described above and Ricks phenotypes- white hair, brain degeneration, artery abnormalities, bending of legs bones similar to scurvy. It is also evident that this disease was inherited from the mother due to signs of unusual twisting of her hair and because of the X-linked recessive inheritance pattern.

34. Menkes Syndrome - New Jersey
menkes syndrome New Jersey - courtesy of Somerset Medical of Somerville, New Jersey.
http://www.somersetmedicalcenter.com/1594.cfm
Community Advisor Search Send to a friend Home  Diseases, Conditions and Injuries
Menkes Syndrome
(Kinky Hair Disease, Steely Hair Disease, Trichopoliodystrophy, X-linked Copper Deficiency, Copper Transport Disease)
by Michelle Badash, MS Definition Causes Risk Factors ... Organizations
Definition
Menkes syndrome is an inherited genetic disorder due to an abnormal gene, ATP7A. Menkes syndrome causes impaired copper absorption. This results in arterial changes and deterioration of the brain. Menkes syndrome is rare. It occurs in 1 out of every 50,000-100,000 births. It affects primarily males. Most children born with Menkes syndrome have a life expectancy of 3-5 years.
Causes
Copper proteins are necessary for the body to build bone, nerves, and other tissue. Babies with Menkes syndrome have a genetic disorder that causes copper to build up in excess amounts in the kidney, while remaining deficient in the liver and brain. This causes changes in the hair, brain, bones, liver, and arteries.
Risk Factors
A risk factor is something that increases your chances of getting a disease or condition. Risk factors for Menkes syndrome include:
  • Sex: Male Family members with Menkes syndrome
Symptoms
Children with Menkes are often born prematurely. Symptoms usually begin to show within three months after birth, and may include:

35. Menkes Syndrome - Swedish Medical Center, Seattle, Washington
menkes syndrome Swedish Medical Center, Seattle, Washington.
http://www.swedish.org/14322.cfm
PDF Version Search Send-to-Friend Health Library Home ... Conditions InBrief
Menkes Syndrome
(Kinky Hair Disease, Steely Hair Disease, Trichopoliodystrophy, X-linked Copper Deficiency, Copper Transport Disease)
by Michelle Badash, MS Definition Causes Risk Factors ... Prevention
Definition
Menkes syndrome is an inherited genetic disorder due to an abnormal gene, ATP7A. Menkes syndrome causes impaired copper absorption. This results in arterial changes and deterioration of the brain. Menkes syndrome is rare. It occurs in 1 out of every 50,000-100,000 births. It affects primarily males. Most children born with Menkes syndrome have a life expectancy of 3-5 years.
Causes
Copper proteins are necessary for the body to build bone, nerves, and other tissue. Babies with Menkes syndrome have a genetic disorder that causes copper to build up in excess amounts in the kidney, while remaining deficient in the liver and brain. This causes changes in the hair, brain, bones, liver, and arteries.
Risk Factors
A risk factor is something that increases your chances of getting a disease or condition. Risk factors for Menkes syndrome include:
  • Sex: Male Family members with Menkes syndrome
Symptoms
Children with Menkes are often born prematurely. Symptoms usually begin to show within three months after birth, and may include:

36. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Nutrition_and_Meta
menkes syndrome A definition and a look at the epidemiology, Justin Gordonand menkes syndrome - Information about Menkes Kinky Hair Syndrome through
http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Nutrition_a
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37. ScienceDaily -- Browse Topics: Health/Nutrition/Nutrients/Vitamins_and_Minerals/
and Diseases Nutrition and Metabolism Disorders Vitamins and MineralsMenkes Syndrome sources, deficiency, supplements and menkes syndrome.
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38. Menkes Disease
Menkes disease national and international information and resources, clinics with menkes syndrome, National Center for Biotechnology Information,
http://www.kumc.edu/gec/support/menkes.html
Menkes disease
(copper transport disorder, copper overload, kinky hair syndrome)
Corporation for Menkes Disease
5720 Buckfield Court Fort Wayne, IN 46804 Phone: 219.436.0137 Email: j1@home.com
Also See: Other To locate a genetic counselor or geneticist in your area:

39. ...Menkes Syndrome
menkes syndrome is an Xlinked recessive disorder with a defect in the intestinalabsorption of copper. The gene has been mapped to Xq13.3, distal to the X
http://www.imbiomed.com/Patol/Ptv44n2/english/Zpt72-01.html
Navarrete C, Castillo-Medina S, Salamanca F
Estudios clínico, génetico y ultraestructural en una familia mexicana con Síndrome de Menkes
Rev Mex Patol Clín,
Clinical, genetic and ultrastructural study in a Mexican family with Menkes´ syndrome
ABSTRACT Menkes syndrome is an X-linked recessive disorder with a defect in the intestinal absorption of copper. The gene has been mapped to Xq13.3, distal to the X inactivation center. Detection of carriers is complicated due generally to the fact that they are phenotypically normal. The findings in a Mexican family in which the mother was found to be obligate carrier with two affected sons are discussed. Key words: Menkes´ syndrome, copper metabolism, detection of carriers.
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40. Menkes Syndrome - WI, Milwaukee WI
menkes syndrome Columbia St. Mary s Community Physicians of Wisconsin, Milwaukee,Ozaukee and Washington County.
http://www.columbia-stmarys.org/13604.cfm
Print Search Send to a friend Home �Diseases, Conditions and Injuries
Menkes Syndrome
(Kinky Hair Disease, Steely Hair Disease, Trichopoliodystrophy, X-linked Copper Deficiency, Copper Transport Disease)
by Michelle Badash, MS Definition Causes Risk Factors ... Organizations
Definition
Menkes syndrome is an inherited genetic disorder due to an abnormal gene, ATP7A. Menkes syndrome causes impaired copper absorption. This results in arterial changes and deterioration of the brain. Menkes syndrome is rare. It occurs in 1 out of every 50,000-100,000 births. It affects primarily males. Most children born with Menkes syndrome have a life expectancy of 3-5 years.
Causes
Copper proteins are necessary for the body to build bone, nerves, and other tissue. Babies with Menkes syndrome have a genetic disorder that causes copper to build up in excess amounts in the kidney, while remaining deficient in the liver and brain. This causes changes in the hair, brain, bones, liver, and arteries.
Risk Factors
A risk factor is something that increases your chances of getting a disease or condition. Risk factors for Menkes syndrome include:
  • Sex: Male Family members with Menkes syndrome
Symptoms
Children with Menkes are often born prematurely. Symptoms usually begin to show within three months after birth, and may include:

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