22 q11 microdeletion syndrome is a birth defect caused by a genetic abnormality that occurs in approximately one in 700 births. A congenital disorder is a medical condition or defect that is present at or before birth (for example, congenital heart disease). ... This stylistic schematic diagram shows a gene in relation to the double helix structure of DNA and to a chromosome (right). ...

Also variously nicknamed, or labelled according to symptomatic manifestations:

• Catch 22
• Conotruncal face anomaly
• Craniofacial syndrome
• DiGeorge syndrome
• Shprintzen syndrome
• Unusual face syndrome
• Velo-cardio-facial syndrome (VCFS) (most common)

Catch-22 Catch-22 is a 1961 novel by American novelist Joseph Heller. ... DiGeorge syndrome is also called Microdeletion 22q11 syndrome (del 22q11. ...

CLINICAL FEATURES:

This is a partial list among a great variety of problems associated with VCFS. None of these features occur in 100% of cases.

1. Cardiac Manifestations

• Tetralogy of Fallot
• right-sided aortic arch
• persistent truncus arteriosus
• aberrant left subclavian artery
• right infundibular stenosis
• ventricular septal defect

2. Facial Manifestations In medicine, the tetralogy of Fallot (described by Etienne Fallot, 1850 - 1911, Marseille) is a significant and complex congenital heart defect, involving four different heart malformations: A ventricular septal defect (VSD), a hole between the two bottom chambers (ventricles) of the heart. ... Echocardiographic image of a large ventricular septal defect. ...

• prominent nose
• down-slanting, almond shaped eyes
• low-set, small ears with narrow ear canals
• high-arched palate
• bifid uvula
• fishmouth deformity

3. Endocrine Manifestations

• Hypoparathyroidism sometimes producing seizures
• Neonatal hypocalcemia sometimes accompanied by tetany and cataracts

4. Immune Manifestations

• Neonatal or acquired abnormal immunity
• If T cell function is compromised, abnormal incidence of fungal or viral infections

5. Other Manifestations

• abdominal malformations
• kidney deformity
• long, tapering fingers
• nasal voice
• scoliosis
• learning disabilities
• schizophrenia or comparable difficulties may develop at the onset of puberty.
• hearing impairment

See also: Reelin hypothesis of the development of Schizophrenia (speculative) Causes of Schizophrenia Note: Please review this material, and the material in Talk:Schizophrenia by the same author marked for review. See also see the speculative article How the pathology of schizophrenia relates to symptoms No simple explanation of Schizophrenia is available. ...

External links

• VCFS Education Foundation