Disease Information for Thymus hypoplasia/DiGeorge syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Congenital facial deformities
Facies particular
Anorexia in Infant
Failure to Thrive
Failure to Thrive Child
Failure to thrive/infant sign
Feeding/Apetite Problems Child
Acute bilateral Hand muscle spasms
Cramping in Extremities
Hand muscle spasms/cramps
Infant Seizures
Seizures
Seizures Newborn
Recurrent URI/Colds/LRI infections
Sickly kid syndrome
Clinical Presentation & Variations
Presentation/Recurrent respiratory infections
Presentation/Lymphopenia Candidal diarrhea
Presentation/Recurrent pneumonia Child
Disease Progression
Course/Chronic disorder
Course/Chronic only
Onset/Six months
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Laboratory Tests
Microbiology & Serology Findings
Common vaccination antibodies absent/low
Abnormal Lab Findings (Non Measured)
Absent/Low B-cells on Flow Cytometry
Chromosomal abnormality (Lab)
Chronic lymphopenia
DNATest specific/genetics laboratory/abnormality (Lab)
Abnormal Lab Findings - Decreased
Calcium, serum (Lab)
Lymphocytes (Lab)
Parathyroid hormone PTH (Lab)
Abnormal Lab Findings - Increased
Phosphate Serum (Lab)
Diagnostic Test Results
Other Tests & Procedures
Skin test anergy
Skin test/DNCB (dinitrochlorobenzene) abnormal
Pathology
PATH/Thymic Hypoplasia/Aplasia
PATH/Thymus T-Cells Absent
CT Scan
CT Scan/Thymus Hypoplasia/Aplasia/Chest
Ultrasound
Ultrasound/Thymus Hypoplasia/Aplasia
Associated Diseases & Rule outs
Rule Outs
Hypocalcemia
Associated Disease & Complications
Agammaglobulinemia
Anergic status
Candida albicans infection
Cellular immunity defect/deficiency
Cleft Lip
Cleft lip/deformity
Cleft palate/deformity
Congenital heart disease
Di George syndrome
Facial dysplasia
Hypocalcemia
Hypogammaglobulinemia
Hypoparathyroidism, primary
Infections
Lymphocytopenia
Lymphocytosis
Pneumococcus infection
Pneumonia, pneumococcal
Sepsis, overwhelming
Tetany
Disease Mechanism & Classification
Class
CLASS/Cellular Immune System Disorder (ex)
CLASS/Immune System Disorder (ex)
CLASS/Pediatric disorders (ex)
CLASS/Spleen/thymus/RES/immune system (category)
CLASS/Thymus disorder (ex)
Pathophysiology
Pathophysiology/Chromosome gene/segment deletion (ex)
Pathophysiology/Gene locus 10p14-p13
Pathophysiology/Gene locus 22q11
Pathophysiology/Gene locus 22q11.2
Pathophysiology/Gene locus Chromosome 10
Pathophysiology/Gene locus chromosome 22
Pathophysiology/Gene locus Chromosome 22q
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Gene locus Tbx1 on chromosome 22 (deletion)
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Failure 3rd,4th fetal pharyngeal pouches
Pathophysiology/Maternal Chromosome mutation
Pathophysiology/Cellular immune def/Humoral immune OK
Pathophysiology/Decreased T Cells
Pathophysiology/Defective cellular immunity
Pathophysiology/Hypoplasia/absent thymus
Pathophysiology/Immune physiology/defective
Pathophysiology/Immune/cellular system disorder (ex)
Process
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Immune system disorder (ex)
Synonyms
Synonym
3rd+4th pharyngeal pouch syndr, Agenesis of the parathyroid AND thymus glands, aplasia parathyroid thymic, Branchial arch syndrome, CATCH22, Congenital thymic aplasia syndrome, DGS, Di George syndrome, Di George's syndrome, DiGeorge, DiGeorge anomaly, DiGeorge sequence, DiGeorge sequence (disorder), DiGeorge syndrome, DiGeorge syndrome (DGS), DiGeorge's Syndrome, familial third and fourth pharyngeal pouch syndrome, HYPOPLASIA OF THYMUS AND PARATHYROIDS, parathyroid thymic aplasia, pharyngeal pouch syndrome, Syndrome DiGeorge, syndrome pharyngeal pouch, Third and fourth pharyngeal arch syndrome, Third and fourth pharyngeal pouch syndrome, thymic and parathyroid agenesis syndrome, thymic aplasia syndrome, Thymic hypoplasia syndrome, Thymic parathyroid aplasia, Synonym/Di George's syndrome, Synonym/Immunodeficiency with hypoparathyroidism, Synonym/Pharyngeal pouch syndrome, Synonym/Thymus aplasia, congenital
Treatment
Drug Therapy - Indication
SX/Stem cell transplant/allogenic
SX/Stem-cell transplant
Definition
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External Links Related to Thymus hypoplasia/DiGeorge syndrome
Google
Wikipedia
Merck
Images
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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