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Related Concept Videos

X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
X-linked Traits01:19

X-linked Traits

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Prosopagnosia01:24

Prosopagnosia

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Facial Feedback Hypothesis01:24

Facial Feedback Hypothesis

Charles Darwin proposed that facial expressions are an evolutionary adaptation for communication. He argued that these expressions are not influenced by culture but are universal across species. For example, a snarling expression with exposed teeth signals a threat in many animals, including humans. Darwin also suggested that displaying an emotion can intensify the feeling. Smiling, for example, could enhance one's sense of happiness. This idea laid the foundation for understanding the role of...
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Articles linked to this work by shared authors, journal, and citation graph.

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Velocardiofacial syndrome.

Otolaryngologic clinics of North America·2001
Same author

Velopharyngeal insufficiency and articulation impairment in velo-cardio-facial syndrome: the influence of adenoids on phonemic development.

International journal of pediatric otorhinolaryngology·2000
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A common molecular basis for rearrangement disorders on chromosome 22q11.

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Related Experiment Video

Updated: Jul 10, 2026

Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome
08:31

Conscious and Non-conscious Representations of Emotional Faces in Asperger's Syndrome

Published on: July 31, 2016

Velo-cardio-facial syndrome: a distinctive behavioral phenotype.

R J Shprintzen1

  • 1Center for the Diagnosis, Treatment, and Study of Velo-Cardio-Facial Syndrome, Department of Otolaryngology and Communication Science, State University of New York Upstate Medical University, Syracuse, New York 13210, USA. shprintr@upstate.edu

Mental Retardation and Developmental Disabilities Research Reviews
|July 19, 2000
PubMed
Summary

Velo-cardio-facial syndrome (VCFS), a common genetic disorder, frequently presents with overlapping behavioral, learning, and psychiatric issues. Understanding these manifestations is crucial as standard treatments may be ineffective or harmful.

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Area of Science:

  • Genetics
  • Neuroscience
  • Psychiatry

Background:

  • Velo-cardio-facial syndrome (VCFS) is a frequent contiguous gene disorder with over 180 identified anomalies.
  • Behavioral manifestations are the most common anomalies in VCFS, including learning disabilities, psychiatric illness, and attention deficit disorder.

Purpose of the Study:

  • To describe the behavioral manifestations of VCFS.
  • To emphasize the overlap between cognitive and psychiatric disorders in VCFS.
  • To highlight the potential ineffectiveness or harm of standard treatments for these conditions in VCFS patients.

Main Methods:

  • Literature review of behavioral and psychiatric findings in Velo-cardio-facial syndrome.
  • Analysis of the genetic basis of VCFS, focusing on the 22q11.2 deletion.
  • Examination of the phenotypic overlap between cognitive and psychiatric disorders.

Main Results:

  • Learning disabilities, psychiatric illness, and attention deficit disorder are nearly ubiquitous in VCFS.
  • These cognitive and psychiatric disorders often overlap, creating a complex clinical picture.
  • Standard treatments for individual symptoms may be ineffective or harmful in VCFS.

Conclusions:

  • The behavioral manifestations of VCFS are complex and often involve overlapping cognitive and psychiatric disorders.
  • The 22q11.2 deletion is being investigated for its genetic link to these disorders.
  • Further research is needed to understand and effectively treat the behavioral aspects of VCFS.