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Disease Information for Thymus hypoplasia/DiGeorge syndrome

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: Be the first to add a definition for Thymus hypoplasia/DiGeorge syndrome
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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