Chromosome 22, microdeletion 22 q11

22 q11 microdeletion syndrome is a birth defect caused by a genetic abnormality that occurs in approximately one in 700 births.

Also variously nicknamed, or labelled according to symptomatic manifestations:

• Catch 22
• Conotruncal face anomaly
• Craniofacial syndrome
• DiGeorge syndrome
• Shprintzen syndrome
• Unusual face syndrome
• Velocardio-facial syndrome (VCFS)

Most commonly known as VCFS

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

• 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)