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Velocardiofacial syndrome

22q11.2 deletion syndrome (also called DiGeorge syndrome and velocardiofacial syndrome) is a disorder caused by the deletion of a small piece of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2. more...

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The features of this syndrome vary widely, even among members of the same family, and affect many parts of the body. Characteristic signs and symptoms include heart defects that are often present from birth, an opening in the roof of the mouth (a cleft palate or other defect in the palate), learning disabilities, recurrent infections caused by problems with the immune system, and mild differences in facial features. Affected individuals may also have kidney abnormalities, low levels of calcium in the blood (which can result in seizures), significant feeding difficulties, autoimmune disorders such as rheumatoid arthritis, and an increased risk of developing mental illnesses such as schizophrenia and bipolar disorder.

Because the signs and symptoms of 22q11.2 deletion syndrome are so varied, different groupings of features were once described as separate conditions. Doctors named these conditions DiGeorge syndrome, velocardiofacial syndrome (also called Shprintzen syndrome), and conotruncal anomaly face syndrome. In addition, some children with the 22q11.2 deletion were diagnosed with Opitz G/BBB syndrome and Cayler cardiofacial syndrome. Once the genetic basis for these disorders was identified, doctors determined that they were all part of a single syndrome with many possible signs and symptoms. To avoid confusion, this condition is usually called 22q11.2 deletion syndrome, a description based on its underlying genetic cause.

Symptoms

Individuals with a 22q11 deletion have a range of findings, including:

  • Congenital heart disease (74% of individuals), particularly conotruncal malformations (tetralogy of Fallot, interrupted aortic arch, ventricular septal defect, and truncus arteriosus)
  • palatal abnormalities (69%), particularly velopharyngeal incompetence (VPI), submucosal cleft palate, and cleft palate; characteristic facial features (present in the majority of Caucasian individuals)
  • learning difficulties (70-90%)
  • an immune deficiency regardless of their clinical presentation (77%)
  • hypocalcemia (50%)
  • significant feeding problems (30%)
  • renal anomalies (37%)
  • hearing loss (both conductive and sensorineural)
  • laryngotracheoesophageal anomalies
  • growth hormone deficiency
  • autoimmune disorders
  • seizures (without hypocalcemia)
  • skeletal abnormalities

Thymus, parathyroid glands and heart derive from the same primitive embryonic structure and that is why these three organs are dysfunctioned together in this disease. Affected patients (usually children) are prone to yeast infections.

Cause

The disease is related with genetic deletions (loss of a small part of the genetic material) found on the long arm of the 22nd chromosome. Some patients with similar clinical features may have deletions on the short arm of chromosome 10.

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Blood Test Finds Velocardiofacial Syndrome
From OB/GYN News, 4/15/00 by Barbara Baker

WAIKOLOA VILLAGE, HAWAII--A simple blood test can now identify families with velocardiofacial syndrome, a chromosome abnormality that occurs in 1 in every 2,000 live-born infants.

The syndrome, caused by a sporadic or autosomally inherited microdeletion on chromosome 22q, can result in a broad spectrum of abnormalities, Dr. Aubrey Milunsky said at a conference on obstetrics, gynecology, perinatal medicine, neonatology, and the law.

These abnormalities include subtle dysmorphic features of a long and narrow face, flat cheeks, and minor ear anomalies. Other conditions associated with the syndrome include cleft palate, speech defects, developmental delay, mental retardation congenital cardiac defects, and psychiatric disorders.

Women with a cluster of these conditions in their family history warrant prenatal genetic counseling for possible testing using a technique called fluorescence in situ hybridization (FISH), said Dr. Milunsky, professor of human genetics, pediatrics, ob.gyn., and pathology at Boston University.

In children, congenital heart defects and learning disabilities are the most common manifestations that should prompt a referral to a geneticist, he added at the meeting, sponsored by the university.

Of note is that the psychiatric conditions associated with velocardiofacial syndrome change with age. Children with the syndrome who are 5-10 years old tend to have attention-deficit hyperactivity disorder. Those 11-18 years old tend to have bipolar disorder or obsessive-compulsive disorder. Adults tend to have bipolar disorder, psychosis, or schizoaffective disorder, he said.

COPYRIGHT 2000 International Medical News Group
COPYRIGHT 2001 Gale Group

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