Diagnostic testing: Diagnosis is based on characteristic clinical findings and confirmed by genetic testing
showing deletion of the critical gene region (WHSCR).
Genetic testing may include cytogenetic analysis, molecular genetic testing and clinical
testing (i.e. Fluorescence in situ hybridization (FISH)) deletion duplication analysis).
• Craniofacial defects (dysmorphic facial features);
• Facial stigmata;
• Prenatal-onset of growth deficiency followed by growth delay;
• Hypotonia (floppy muscle tone); and
• Muscle underdevelopment.
Other findings include:
• Skeletal anomalies, such as scoliosis or kyphosis;
• Congenital heart defects;
• Conductive hearing loss;
• Skin changes, such as mottled or dry skin;
• Missing teeth;
• Cleft palate or cleft lip; and
• Abnormalities of the eyes, genitourinary tract, and brain have also been reported.
Delayed intellectual development is variable but present in all. Moderate to profound
intellectual disability is estimated present in 85% of those affected. Expressive
language is limited to guttural sounds and simple sentences.