Velocardiofacial Syndrome Clinical Presentation

  • Author: M Silvana Horenstein, MD; Chief Editor: Stuart Berger, MD   more...
 
Updated: Feb 29, 2012
 

History

Cyanosis may be present in individuals with velocardiofacial syndrome (VCFS) if cardiac disease is also present (eg, truncus arteriosus, tetralogy of Fallot).

Feeding difficulty and slow growth may occur due to congestive heart failure, palatal abnormality, or hypotonia.

Nasal regurgitation of formula in infancy is common in patients later diagnosed with submucous cleft palate.

Delayed speech development associated with poor articulation and hypernasality can be caused by velopharyngeal incompetence (VPI). Patients may be unresponsive to speech therapy.

Recurrent otitis media associated with palatal abnormality can contribute to speech delay and hearing loss, which often require the placement of ventilating tubes.

Developmental delay in infants with a learning disorder becomes apparent in childhood. Attention deficit hyperactivity disorder (ADHD) occurs in 35-55% of persons with velocardiofacial syndrome.

Poor social interaction or behavioral difficulties are common. Psychiatric disorders (including obsessive-compulsive disorder and schizophrenia) are reported in at least 10% of patients.

Seizures related to hypocalcemia generally occur in the first year of life. The hypocalcemia generally resolves spontaneously over time, although a small number of patients present with hypocalcemia in the teen years. Frequent upper respiratory infections are commonly reported.

Short stature has been reported in approximately 30% of patients with velocardiofacial syndrome.

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Physical

Cyanosis may be present if an obligate systemic-to-pulmonic (right-to-left) shunt is present.

A heart murmur is present in most patients with a cardiac defect.

Craniofacial dysmorphism is often observed as a round face in infancy with prominent parietal bones and a bulbous nasal tip. The face appears long and hypotonic with narrow palpebral fissures, puffy upper eyelids, a squared nasal root, and a narrow alar base with thin alae nasi. Facial asymmetry, microcephaly, and small, often unusually shaped, ears may be noted at any age.

A palatal abnormality can manifest as an overt cleft palate affecting the hard or soft palate or as a submucous cleft palate that can be detected upon palpation of the hard palate. Even a normal-appearing palate can be associated with velopharyngeal incompetence.

Hypernasal speech and poor articulation often are observed.

Hypospadias or cryptorchidism may be present in males.

Varying degrees of hypotonia are observed in patients and may be associated with delay of motor, speech, and feeding skills. The presence of developmental delays is independent from the presence of a hearing defect.

Long and tapering fingers are a common sign of velocardiofacial syndrome.

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Causes

Most patients with velocardiofacial syndrome have a microdeletion at the q11.2 locus of the long arm of chromosome 22. About 10% of patients inherit this deletion from a parent, and the rest have it as the result of a new mutation.

Abnormal exchange between chromosome 22s during meiosis is the predominant mechanism for this deletion.

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Contributor Information and Disclosures
Author

M Silvana Horenstein, MD  Assistant Professor, Department of Pediatrics, University of Texas Medical School at Houston; Medical Doctor Consultant, Legacy Department, Best Doctors, Inc

M Silvana Horenstein, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, and American Medical Association

Disclosure: Nothing to disclose.

Coauthor(s)

Thomas J Forbes, MD, FACC, FSCAI  Associate Professor (Clinical-Educator), Director of Catheterization Laboratory, Division of Pediatric Cardiology, Children's Hospital of Michigan, Wayne State University

Thomas J Forbes, MD, FACC, FSCAI is a member of the following medical societies: American College of Cardiology, American Heart Association, and Society of Cardiac Angiography and Interventions

Disclosure: Nothing to disclose.

Robert Ardinger Jr, MD  Associate Professor, Department of Pediatrics, Division of Pediatric Cardiology, University of Kansas Medical Center

Robert Ardinger Jr, MD is a member of the following medical societies: American Academy of Pediatrics and American College of Cardiology

Disclosure: Nothing to disclose.

Holly Ardinger, MD  Clinical Associate Professor, Section Chief, Pediatric Genetics, Department of Pediatrics, University of Kansas Medical Center

Holly Ardinger, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Specialty Editor Board

Jeffrey Allen Towbin, MD, MSc, FAAP, FACC, FAHA  Professor, Departments of Pediatrics (Cardiology), Cardiovascular Sciences, and Molecular and Human Genetics, Baylor College of Medicine; Chief of Pediatric Cardiology, Foundation Chair in Pediatric Cardiac Research, Texas Children's Hospital

Jeffrey Allen Towbin, MD, MSc, FAAP, FACC, FAHA is a member of the following medical societies: American Academy of Pediatrics, American Association for the Advancement of Science, American College of Cardiology, American College of Sports Medicine, American Heart Association, American Medical Association, American Society of Human Genetics, Cardiac Electrophysiology Society, New York Academy of Sciences, Society for Pediatric Research, Texas Medical Association, and Texas Pediatric Society

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Ameeta Martin, MD  Clinical Associate Professor, Department of Pediatric Cardiology, University of Nebraska College of Medicine

Ameeta Martin, MD is a member of the following medical societies: American College of Cardiology

Disclosure: Nothing to disclose.

Gilbert Z Herzberg, MD  Assistant Professor, Department of Pediatrics, Section of Pediatric Cardiology, New York Medical College; Consulting Staff, Department of Pediatrics, Sound Shore Medical Center

Gilbert Z Herzberg, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Chief Editor

Stuart Berger, MD  Professor of Pediatrics, Division of Cardiology, Medical College of Wisconsin; Chief of Pediatric Cardiology, Medical Director of Pediatric Heart Transplant Program, Medical Director of The Heart Center, Children's Hospital of Wisconsin

Stuart Berger, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American College of Chest Physicians, American Heart Association, and Society for Cardiac Angiography and Interventions

Disclosure: Nothing to disclose.

References

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Chromosomal fluorescence in situ hybridization (FISH) demonstrating the deletion of one chromosomal region 22q11 segment.
Karyotype of a patient with a deletion of chromosome region 22q11. Complete karyotype is shown along with an enlargement of an image of chromosome 22 demonstrating the deletion.
 
 
 
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