Velocardiofacial Syndrome (VSFS) is a genetic disorder with numerous different anomalies present. The syndrome has various other names including: DiGeorge sequence, 22q11.2 deletion syndrome, Conotruncal anomalies face syndrome, CATCH 22, Cayler Cardiofacial syndrome, and Shprintzens Syndrome (“National Human Genome,” 2011). It is reported as the second most common chromosomal anomaly syndrome, next to Down syndrome (Forsyth et al.). The overall incidence of the syndrome is about 1 in 4,000-4,5000 live births (Eliez, et al., 2000). Although it is usually random, about 10% of the cases are inherited. The gene is autosomal dominant, so there is a 50% chance a parent will pass it onto their children (About VCFS).
The syndrome is caused by microdeletion from Chromosome 22, at the q11.2 band level. Most individuals with the disorder have 3 identical megabase deletions, which affect about 40 different genes. The syndrome is associated with over 180 clinical features, essentially involving almost all organs/systems of the human body. However, the symptomatic spectrum of the disorder is vast; some individuals diagnosed with VCFS have extremely mild symptoms and often live undiagnosed because of such mild abnormalities, while other individuals are affected extensively, with life impairing and often life threatening symptoms (Shprintzen, 2008).
No single symptom occurs with all cases of the syndrome; specific symptoms for each case are highly variable. However, some of the more common symptoms include cardiac issues, velopharyngeal dysfunctions, immunodeficiency, hypocalcaemia, palate anomalies (often submucous clefts), delayed motor and speech development in children, psychiatric disorders in adults, and specific facial characteristics. Facial characteristics are often very subtle, but include narrow eyes, long face, cupped ears, and a bulbous nose (Forsyth, et al., 2008) Additional symptoms include learning difficulties/mild cognitive impairment, feeding problems in infancy, hypotonia, chronic upper respiratory and middle ear infections, among many others ("VCFS-Knowledge is Hope," 2007).
Many of the symptoms associated with the disorder change as a person ages. A Norwegian study was conducted by Lima et al. focusing on the age dependent problems associated with individuals with VCFS. The study found that feeding problems and increased susceptibility to infections were most prominent in infancy to early childhood. Speech difficulties were a major problem in children with VCFS up until about age ten years. During teenage years and adulthood, they identified learning disabilities, atypical social behavior, and psychiatric issues (Bipolar Disorder, Schizophrenia, etc.) as the dominant symptoms (Lima et al., 2010).
As mentioned, one particular symptom very commonly associated with VCFS is cleft palate. VCFS accounts for about 8% of people with single cleft palates. Usually, individuals who have this syndrome have a cleft of the secondary, not the primary palate. Such clefts can be submucous, overt, or occult submucous clefts. Due to this deviancy, velopharyngeal insufficiency/dysfunction is extremely common. Velopharyngeal insufficiency often causes hypernasal speech characteristics throughout the life span and discoordinated swallowing and feeding issues in infantry/early childhood (Pike, et al, 1997).
About VCFS. (n.d.). Velo-cardio-facial Syndrome Foundation, Inc. Retrieved from
The syndrome is caused by microdeletion from Chromosome 22, at the q11.2 band level. Most individuals with the disorder have 3 identical megabase deletions, which affect about 40 different genes. The syndrome is associated with over 180 clinical features, essentially involving almost all organs/systems of the human body. However, the symptomatic spectrum of the disorder is vast; some individuals diagnosed with VCFS have extremely mild symptoms and often live undiagnosed because of such mild abnormalities, while other individuals are affected extensively, with life impairing and often life threatening symptoms (Shprintzen, 2008).
No single symptom occurs with all cases of the syndrome; specific symptoms for each case are highly variable. However, some of the more common symptoms include cardiac issues, velopharyngeal dysfunctions, immunodeficiency, hypocalcaemia, palate anomalies (often submucous clefts), delayed motor and speech development in children, psychiatric disorders in adults, and specific facial characteristics. Facial characteristics are often very subtle, but include narrow eyes, long face, cupped ears, and a bulbous nose (Forsyth, et al., 2008) Additional symptoms include learning difficulties/mild cognitive impairment, feeding problems in infancy, hypotonia, chronic upper respiratory and middle ear infections, among many others ("VCFS-Knowledge is Hope," 2007).
As mentioned, one particular symptom very commonly associated with VCFS is cleft palate. VCFS accounts for about 8% of people with single cleft palates. Usually, individuals who have this syndrome have a cleft of the secondary, not the primary palate. Such clefts can be submucous, overt, or occult submucous clefts. Due to this deviancy, velopharyngeal insufficiency/dysfunction is extremely common. Velopharyngeal insufficiency often causes hypernasal speech characteristics throughout the life span and discoordinated swallowing and feeding issues in infantry/early childhood (Pike, et al, 1997).
References
About VCFS. (n.d.). Velo-cardio-facial Syndrome Foundation, Inc. Retrieved from
http://www.vcfsef.org/about_vcfs.php?parent_id=2.
Eliez, S, Schmitt, J.E., White, C.,
& Reiss, A. (2000). Children and adolescents with
velocardiofacial syndrome: A volumetric MRI study. The
American Journal of Psychiatry,
157(3), 409-415. doi:10.1176/appi.ajp.157.3.409.
Forsyth, A., & Morrison, M. (2008).
22ql1 Deletion Syndrome (Velocardiofacial
Syndrome), ACQ, 2(1), 50–3.
Lima, K., Følling, I., Eiklid, K. L.,
Natvig, S., & Abrahamsen, T. G. (2010). Age-dependent
clinical problems in a Norwegian national survey of patients with the
22q11.2 deletion
syndrome. European Journal of Pediatrics, 169(8),
983–989. doi:10.1007/s00431-010-1161-
3.
Pike, A.C., Super, M. (1997).
Velocardiofacial syndrome. Postgrad Med Journal, 73, 771-775.
Retrieved from
http://pmj.bmj.com.libsrv.wku.edu/content/73/866/771.full.pdf.
Shprintzen, R. J. (2008).
Velo-cardio-facial syndrome: 30 Years of study. Developmental
Disabilities Research Reviews, 14(1), 3–10.
doi:10.1002/ddrr.2.
Velo-Cardio-Facial Syndrome Knowledge is
Hope. (2007). VCFS Education Foundation, Inc.
Retrieved from http://www.vcfsef.org/.
Learning about Velocardiofacial
Syndrome. (2011). Genome.gov. Retrieved from
http://www.genome.go/25521139.
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