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Illness finder is a diagnostic medicine tool for educational purpose that looks up your patients' health conditions or symptoms and diagnosis and find diseases or illnesses based on chosen gender, age, risk factors, illness, signs, symptoms and prevalence. Illnessfinder is inspired by Evidence based medicine (EMB) and healthcare that aims to apply the best (most reliable) knowledge that is available at decision time. Illnessfinder aims to free up time for the therapeutic dialogue and ensure quality at the evidence based practice, uniting proven medical findings and clinical evidence with systematised data technology.
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| Menkes Kinky Hair Syndrome | Legal notice |
Other terms
Hypocupremia, Congenital,Congenital Hypocupremias,Hypocupremias, Congenital,Kinky Hair Disease,Diseases, Kinky Hair,Hair Diseases, Kinky,Kinky Hair Diseases,Kinky Hair Syndrome,Menkes Syndrome,Menkes' Disease,Diseases, Menkes',Menkes' Diseases,Steely Hair Disease,Disease, Steely Hair,Diseases, Steely Hair,Hair Diseases, Steely,Steely Hair Diseases,Steely Hair Syndrome,Steely Hair Syndromes,Syndrome, Steely Hair,Syndromes, Steely Hair,Congenital Hypocupremia,Menkes Disease
Description
Menkes Kinky Hair Syndrome: An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)
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- Brain Diseases, Metabolic, Inborn
- Mental Retardation, X-Linked
- Mental Retardation, X-Linked
- Heredodegenerative Disorders, Nervous System
- Mental Retardation, X-Linked
- Brain Diseases, Metabolic, Inborn
- Metal Metabolism, Inborn Errors
- Hair Diseases
- Brain Diseases, Metabolic, Inborn
- Brain Diseases, Metabolic, Inborn
- Metal Metabolism, Inborn Errors
Legal notice
The U.S. National Library of Medicine is the creator, maintainer, and provider of the data above.
The version of the data is 2010 MeSH. Last reviewed April 26, 2010. No modification has been made in the content of the file.
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