Digeorge Syndrome

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Contents 1 Introduction 2 Pathology 3 Genetics 4 Laboratory 5 More General Terms 6 Additional Terms 7 Internet Database 8 References

Introduction

• Congenital anomaly of the 3rd & 4th pharyngeal pouches. Absence of thymus & parathyroids.

Pathology

• absence of thymus & parathyroids
• deformities of the ear, nose, mouth
• structural & functional palate anomalies
• facial anomalies
• cardiac

• interrupted aortic arch
• tetralogy of Fallot
• persistent truncus arteriosus 6 immunodeficiency

Genetics

• most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region)
• associated with defects in TBX1

• haploinsufficiency of the TBX1 gene is responsible for most of the physical malformations present in DiGeorge syndrome & velocardiofacial syndrome
• these two syndromes represent two forms of clinical expression of the same entity manifesting at different stages of life

• may be role for HIRA, LZTR1, DGCR13, GSC2, DVL1L1

Laboratory

• hypocalcemia

More General Terms

• immunodeficiency; immunodeficiency syndrome
• endocrine disease
• developmental disorder syndrome (multisystem disorder)
• genetic syndrome (multisystem disorder)

Additional Terms

• Shprintzen syndrome (velocardiofacial syndrome)

Internet Database

OMIM: 188400
OMIM: 601225

References

1. Mendelian Inheritance in Man (1990) MIM#188400
2. Harrison's Principles of Internal Medicine, 13th ed. Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 1038

DiGeorge syndrome (velocardiofacial syndrome)