Diagnostic Criteria

Suggestive Findings

7q11.23 duplication syndrome should be suspected in individuals with the following findings:

Source: GeneReviews — "7q11.23 Duplication Syndrome"

Differential Diagnosis

7q11.23 duplication syndrome should be distinguished from other syndromes that include developmental delay, macrocephaly, hypotonia, distinctive craniofacial features, and behavior issues. Examples include fragile X syndrome (see FMR1 Disorders) and Sotos syndrome. 7q11.23 duplication syndrome should be added to the list of syndromes that are associated with aortic dilatation: Marfan syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndromes (EDS) (see Classic EDS, Hypermobility EDS, PLOD1-Related Kyphoscoliotic EDS, and Vascular EDS), and thoracic aortic disease. The distinctive facial features and developmental and behavioral phenotype of 7q11.23 duplication syndrome distinguish it from these conditions.

Source: GeneReviews — "7q11.23 Duplication Syndrome"

Management Guidelines

Suggestions for evaluation, health surveillance, and treatment have been published .

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with 7q11.23 duplication syndrome, the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended.

Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with 7q11.23 Duplication Syndrome

System/Concern | Evaluation | Comment

Development

| Multidisciplinary developmental assessment to incl motor, adaptive, cognitive, speech-language eval | • Speech-language eval preferably by examiner experienced in evaluating childhood apraxia of speech

• PT eval

• OT eval (incl assessment for sensory integration difficulties)

• Eval for early intervention/ special education, incl learning disability services

Neurologic

| Neurologic eval | • Consider EEG if seizures are a concern.

• Consider brain MRI in those w/macrocephaly /or abnormal neurologic exam to evaluate for ventriculomegaly/hydrocephalus, cerebellar vermis hypoplasia, /or white matter abnormalities.1

Psychiatric/

Behavioral

| Neuropsychiatric eval | Age 12 mos: screening for behavior concerns (preferably by licensed psychologist) incl:

Source: GeneReviews — "7q11.23 Duplication Syndrome"

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "7q11.23 Duplication Syndrome"

Surveillance Guidelines

Table 5. Recommended Surveillance for Individuals with 7q11.23 Duplication Syndrome

Source: GeneReviews — "7q11.23 Duplication Syndrome"