Disease Information for Menkes steely hair disease

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Clinical Manifestations
Signs & Symptoms
Curly Hair
Hair coarse/stiff
Hair lacks pigment/congenital/sign
Hypopigmentation
Failure to Thrive
Failure to Thrive Child
Poor weight gain/child
Equinus Posture/Ankles
Infant Seizures
Mental Deficiency Child
Mental Slowing Deteriation
Seizures
Seizures/Children/recurrent
Spasticity/Spastic gait
Psychomotor retardation
Legs/anterior bowing
Infant Abnormal Cry/Quality
Clinical Presentation & Variations
Presentation/Liver Brain Bone Artery Involvement
Presentation/Progressive dementia Child Infant
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Family History
Family history/Epilepsy
Sex & Age Groups
Population/Boy patient
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Population/Infant male
Population/Male
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Decreased copper oxidase/serum (Lab)
Abnormal Lab Findings - Decreased
Ceruloplasmin (Lab)
Copper, serum (Lab)
Diagnostic Test Results
Pathology
BX/Liver biopsy/Copper deposit/tissue
CT Scan
CT/Dexa-Scan Bone density Abnormal
X-RAY
Xray/Anomalous rib cage/congenital
Xray/Cupping distal ulna/Arm
Xray/Femur distal spurs/Leg
Xray/Flaring of ribs/anterior/Chest
Xray/Ribs Abnormal/Deformities
Xray/Skeletal findings
Angiography
Angios/Tortuosity/aneurysmal changes diffuse
Associated Diseases & Rule outs
Associated Disease & Complications
Convulsions (grand mal)
Copper deficiency/deficit
Cutis marmorata
Cutis marmorata/newborn
Developmental neurologic degeneration/child
Growth retardation/failure
Hypothermia
Male osteoporosis syndrome
Menkes steely hair disease
Mental retardation
Microcephaly/oligophrenia
Osteoporosis/osteopenia
Pathologic fractures
Rib anomalies/Hypoplastic/deformed
Seizure disorder (epilepsy)
Skeletal dysplasia
Thoracic deformity/congenital
Metabolic Bone Disease
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Dermatologic/Subcutaneous (category)
CLASS/Hair involvement/disorder (ex)
Pathophysiology
Pathophysiology/Copper protein/enzyme defect
Pathophysiology/Copper/Ceruloplasmin/Lysyl oxidase def
Pathophysiology/Gene locus Chromosome X.
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Maternal inheritance
Pathophysiology/Intestinal copper transport/defect
Pathophysiology/Osteoporosis Secondary
Process
PROCESS/Congenital/developmental (category)
PROCESS/Copper/metabolism disorders (ex)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Sex-linked (X-linked) recessive inheritance (ex)
Synonyms
Synonym
CONGEN HYPOCUPREMIA, Congenital hypocupraemia, congenital hypocupraemia syndrome, Congenital Hypocupremia, Congenital Hypocupremias, copper transport disease, Disease Steely Hair, Diseases Kinky Hair, Diseases Menkes', Diseases Steely Hair, Hair Diseases Kinky, Hair Diseases Steely, hair kink Menkes (kinky hair syndrome), hair syndrome kinky, HYPOCUPREMIA CONGEN, Hypocupremia Congenital, Hypocupremias Congenital, kink hair Menkes (kinky hair syndrome), KINKY HAIR DIS, Kinky hair disease, Kinky Hair Diseases, Kinky hair syndrome, kinky hair syndrome (KHS), MENKEA SYNDROME, Menkes, MENKES DIS, Menkes Disease, Menkes' Disease, Menkes' Diseases, Menkes kinky hair syndrome, Menke's kinky hair syndrome, Menkes' kinky hair syndrome, Menkes kinky hair syndrome (disorder), Menkes kinky hair syndrome (MKHS), Menkes Syndrome, Menkes' syndrome, MK, MK Menkes syndrome, MNK, MNK Menkes syndrome, sex linked neurodegenerative disease with monilethrix, STEELY HAIR DIS, STEELY HAIR DISEASE, Steely Hair Diseases, steely hair syndrome, Steely Hair Syndromes, syndrome kinky hair, Syndrome Steely Hair, Syndromes Steely Hair, Trichopoliodystrophy, X linked copper deficiency, X linked copper malabsorption, Synonym/Copper transport disorder, Synonym/Inherited copper deficiency, Synonym/Steely hair disease, Synonym/Trichopoliodystrophy, Synonym/X-linked copper deficiency
Definition

Menkes Disease; Copper Transport Disease; Kinky Hair Disease; Steely Hair Disease; Trichopoliodystrophy; X-linked Copper Deficiency; X-linked Copper Malabsorption; Menkes disease is a genetic disorder of copper metabolism that is detectable before birth (prenatally) and which follows a progressively degenerative path involving several organs of the body but especially the brain; It is characterized by seizures, mental retardation, stunted growth, failure to thrive, unstable body temperature, and very unusual color and texture of hair; It is the failure of the copper transport systems within the cell and then across the cell membrane that are responsible for the symptoms of the disorder; Because of the failure of this transport system, copper is unavailable to various cells where it is essential for the structure and function of various enzymes that control the development of hair, brain, bones, liver and arteries; Menkes disease is inherited as an X-linked recessive trait and is found disproportionately in male children; [NORD 2005]------------------------------

Menkes syndrome: A genetic disorder, also known as kinky hair syndrome, in which the hair is fragile and twisted ("kinky") and there is progressive deterioration of the brain and arterial changes leading to death in infancy; The condition is an inborn error of metabolism that markedly decreases the ability to absorb copper; It can often be diagnosed by looking at the person"s hair, which appears to be both whitish and kinked when viewed under a microscope;

The syndrome is inherited as an X-linked recessive disorder; Females with the gene on one of their two X chromosomes are normal carriers and each of their sons has a 50% risk of receiving that X and having the disease; The gene for the disease is located in chromosome region Xq12-q13_3; Menkes syndrome is characterized by early retardation in growth, the peculiar hair, and cerebral degeneration beginning within a month or two after birth and progressing rapidly to death in the first or second year of life; The hair is stubby and white; Microscopically it shows twisting, varying diameter along the length of the shaft, and often fractures of the shaft at regular intervals; The basic error underlying the disease involves a zinc-binding protein (ZBP); Because zinc and copper metabolism are interrelated, the error involving ZBP affects copper transport and results in a deficiency of copper, which is needed by enzymes involved in making bone, nerve and other key structures; Injections of copper histidine or copper chloride administered within the first ten days after birth have been reported to improve or even normalize the outcome for some children with Menkes syndrome; However, other children with the disease show no appreciable benefit from this therapy; --------------------

----[medicineNet_com 2005]--------------

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