Disease Information for Turner mosaic syndrome

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Clinical Manifestations
Signs & Symptoms
Congenital low hairline
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Facies particular
Short neck/Brevicollis
Webbed neck deformity/Broad neck
Wide spaced hypoplastic nipples/girl
High blood pressure child
Absent pubic/axillary hair
Excess neck skin/infant
Telangiectasias in Children
Delayed adolescence/secondary sex changes
Delayed female adolescence
Newborn posterior neck edema/swelling
Newborn posterior neck skin folds/edema
Intersex Spectrum Child
Failure to Thrive
Lymphedema of lower extremities
Newborn/Edema hands/feet dorsum
Amenorrhea
Amenorrhea, primary
Arms carried out from body/abducted
Asymmetric arthritis/multiple joints
Dysmorphic dwarfism/short stature
Increased Carrying Angle/Elbows
Multiple Joint Arthritis
Polyarticular Joint Pain
Difficult intubations/anatomic
Dysmorphic appearance/face
Short stature
Short stature Child
Blue Sclera
Ptosis (blepharoptosis)
Low set ears/congenital
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Presentation/Juvenile Cataract
Demographics & Risk Factors
Established Disease Population
Patient/Turner syndrome
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Female
Population/Girl patient
Population/Infant
Population/Infant female
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Chromosome Karyotype Abnormal
Absent Barr bodies/Buccal smear/female (Lab)
Abnormal Lab Findings - Decreased
Aldosterone, serum (Lab)
Estradiol Serum (Lab)
URINE Estrogens
URINE/Estradiol (Lab)
URINE/Estratriol (Lab)
Abnormal Lab Findings - Increased
FSH/Follicle Stmulating Hormone/ICSH (Lab)
LH/Leutinizing Hormone (Lab)
URINE FSH
URINE Leutininzing hormone
Diagnostic Test Results
Pathology
BX/Ovary abnormal
BX/Ovary absent primordial follicles/fibrous streaks
Associated Diseases & Rule outs
Associated Disease & Complications
Genital anomalies/caused
Gonadal dysgenesis/female
Hypertension in a child
Infertility/sterility, female
Lymphedema, hereditary
Obesity
Obesity in Children
Ovarian aplasia/Congenital absence
Ovarian Dysfunction
Diabetes mellitus/non-insulin dep/type II
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Monosomy/X chromosome
Pathophysiology/Hypergonadotrophic hypogonadism
Pathophysiology/Congenital Lymphedema extremities
Pathophysiology/Female sexual/organ infantilism
Pathophysiology/Ovarian dysfunction anovulation
Pathophysiology/Chromosome XO Syndrome
Process
PROCESS/Chromosomal disorder (ex)
PROCESS/Genetic mosaicism/possible (ex)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Dystostosis/craniofacial (ex)
Definition

genetic disease that produces sterile females due to monosomy for X chromosome; the ovaries are rudimentary or missing; other abnormalities include short stature, webbed neck, and a broad chest with widely spaced nipples---------------------------------------------------

Turner Syndrome;45, X Syndrome; Bonnevie-Ulrich Syndrome;

Chromosome X, Monosomy X; Gonadal Dysgenesis (45,X);

Gonadal Dysgenesis (XO); Monosomy X; Morgagni-Turner-Albright Syndrome; Ovarian Dwarfism, Turner Type; Ovary Aplasia, Turner Type; Pterygolymphangiectasia; Schereshevkii-Turner Syndrome; Turner-Varny Syndrome;

XO Syndrome; Turner syndrome is a rare chromosomal disorder of females characterized by short stature and the lack of sexual development at puberty; Other physical features may include a short neck with a webbed appearance, heart defects, kidney abnormalities, and/or various other malformations; Among affected females, there is also a heightened incidence of osteoporosis, type II diabetes, and hypothyroidism; There appears to be great variability in the degree to which girls with Turner syndrome are affected by any of its manifestations; Turner syndrome occurs when one of the two X chromosomes normally found in women is missing or incomplete; Although the exact cause of Turner syndrome is not known, it appears to occur as a result of a random error during the division (meiosis) of sex cells.

-----------------[NORD Website 2005]---------------

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External Links Related to Turner mosaic syndrome
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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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