Disease Information for Progeria

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Clinical Manifestations
Signs & Symptoms
Beaked nose/congenital
Prominent Nose
Baldness/Alopecia
Gray Hair
Gray hair Childhood
Gray hair, premature
Hair loss
Increased wrinkling/skin
Localized Scleroderma Skin area
Non-scarring Alopecia/balding
Silvery gray hair/child
White Hair
Bossing forehead,infants
Premature Aging
Short stature
Short stature Child
Typical Clinical Presentation
Presentation/Coronary Heart Disease Young Age
Clinical Presentation & Variations
Presentation/Arteriosclerosis Young Age
Presentation/Myocardial Infarction in a Child
Presentation/Juvenile Cataract
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Diagnostic Test Results
X-RAY
Xray/Calcified artery/veins finding
Xray/Subcutaneous ossification centers/calcification
Xray/Soft tissue calcification/muscle/subcutaneous
Xray/Distal Clavicle Bone Resorption/Chest
Xray/Frontal bossing, infant/Skull
Xray/Parietal bossing/Skull
Xray/Ribs inferior bone resorption
Xray/Ribs, notching margins
Associated Diseases & Rule outs
Rule Outs
Scleroderma, progressive systemic
Associated Disease & Complications
Cataract
Diabetes mellitus
Growth retardation/failure
Ischemia, cardiac
Nail dystrophy
Premature aging/senescence
Progeria
Testicular atrophy
Diabetes mellitus/non-insulin dep/type II
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Systemic/no comment (category)
Pathophysiology
Pathophysiology/Myocardial Ischemia Non-Arteriosclerosis
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Use/Age/atrophic disorder (category)
Synonyms
Synonym
Gilford Hutchinson, Gilford's syndrome, HGPS, Hutchinson Gilford, Hutchinson Gilford Disease, HUTCHINSON GILFORD PROGERIA SYNDROME, Hutchinson Gilford Syndrome, Hutchinson Gilford syndrome (disorder), Premature senility syndrome, Progeria, Progeria (disorder), Progeria syndrome, Progeria syndrome (disorder), Senilism syndrome, Syndrome Hutchinson Gilford, syndrome premature senility, Synonym/Gottron Syndrome (Progeria Subset), Synonym/Weber syndrome, Synonym/Werner's syndrome
Definition

An abnormal congenital condition characterized by premature aging in children, where all the changes of cell senescence occur; It is manifested by premature greying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; and accelerated ATHEROSCLEROSIS; Many affected individuals develop malignant tumors, especially SARCOMA---------- Synonyms: Hutchinson Gilford; HGPS; Hutchinson-Gilford Progeria Syndrome; Hutchinson-Gilford Syndrome; Premature Aging Syndrome; Progeria;

Progeria of Childhood; Progeria, or Hutchinson-Gilford progeria syndrome, is a rare, fatal, genetic condition of childhood with striking features resembling premature aging; Children with progeria usually have a normal appearance in early infancy; At approximately nine to 24 months of age, affected children begin to experience profound growth delays, resulting in short stature and low weight; They also develop a distinctive facial appearance characterized by a disproportionately small face in comparison to the head; an underdeveloped jaw (micrognathia); malformation and crowding of the teeth; abnormally prominent eyes; a small, nose; prominent eyes and a subtle blueness around the mouth; In addition, by the second year of life, the scalp hair, eyebrows, and eyelashes are lost (alopecia), and the scalp hair may be replaced by small, downy, white or blond hairs; Additional characteristic features include generalized atherosclerosis, cardiovascular disease and stroke, hip dislocations, unusually prominent veins of the scalp, loss of the layer of fat beneath the skin (subcutaneous adipose tissue), defects of the nails, joint stiffness, skeletal defects, and/or other abnormalities; According to reports in the medical literature, individuals with Hutchinson-Gilford progeria syndrome develop premature, widespread thickening and loss of elasticity of artery walls (arteriosclerosis), which result in life-threatening complications during childhood, adolescence, or early adulthood; Children with progeria die of heart disease (atherosclerosis) at an average age of 13 years, with a range of about eight to 21 years; Progeria is caused by a mutation of the gene LMNA, or lamin A; The lamin A protein is the scaffolding that holds the nucleus of a cell together; Researchers now believe that the defective lamin A protein makes the nucleus unstable; That cellular instability appears to lead to the process of premature aging in progeria; each case is believed to represent a sporadic, new mutation --------[NORD 2005]---------

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External Links Related to Progeria
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Wikipedia
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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