Velocardiofacial Syndrome Clinical Presentation

Updated: Feb 13, 2014
  • Author: M Silvana Horenstein, MD; Chief Editor: Howard S Weber, MD, FSCAI  more...
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Presentation

History

Clinical presentation is highly variable in patients with this deletion syndrome, ranging from severe and detected at birth to very subtle and only recognized later in life.

Cyanosis may be present in individuals with velocardiofacial syndrome (VCFS) with certain cardiac defects, such as truncus arteriosus or tetralogy of Fallot. Neonates with an interrupted aortic arch may present with tachypnea, poor feeding, lethargy, or cardiogenic shock if prostaglandins are not initiated promptly.

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 VCFS. Twenty-five to 50% of these children fall below the second percentile for all growth parameters. [14]

Typical facial features include a bulbous-tipped nose, micrognathia, and malar flattening.

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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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