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22q11.2 deletion syndrome, also known as DiGeorge anomaly, DiGeorge Syndrome, Velo-Cardio-Facial syndrome, Shprintzen syndrome, conotruncal anomaly face ...
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DiGeorge syndrome is a rare congenital (i.e. present at birth) disease whose symptoms vary greatly between individuals but commonly include a history of recurrent infection, heart defects, and characteristic facial features.
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MIM #188400 · Text · Description · Nomenclature · Clinical Features · Biochemical Features · Other Features · Inheritance · Cytogenetics ...
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DiGeorge syndrome — Comprehensive overview covers causes, symptoms, treatment of this chromosomal disorder. ... Kobrynski LJ, et al. Velocardiofacial syndrome, DiGeorge syndrome: The chromosome 22q11.2 deletion syndromes. Lancet. 2007;370:1443.
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Overview: Conditions associated with DiGeorge syndrome are the other 22q11 deletion syndrome (22q11DS) known as the velocardiofacial syndrome (VCFS or Shprintzen syndrome), as well as conotruncal anomaly face syndrome, Cayler syndrome, Opitz-GBBB syndrome, and CHARGE(coloboma [eye], heart ... ... More on DiGeorge Syndrome...
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Di George's syndrome - Wikipedia, the free encyclopedia
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DiGeorge syndrome is a disorder described in the 1960?s by Dr. Angelo DiGeorge. He observed the combination of a lack of the thymus gland (which is important for certain aspects of immunity) and a lack of parathyroid glands (which results in low calcium levels in the blood). ... If Your Child Has DiGeorge Syndrome...
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Detailed information on DiGeorge syndrome, including causes, features, diagnosis, and treatment ... What is DiGeorge syndrome? ... What are the features of DiGeorge syndrome?
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