Diagnostic Criteria

Suggestive Findings

The 3q29 recurrent deletion should be considered in individuals with the following clinical findings :

• Developmental delay typically including speech and motor delays

• Intellectual disability; mild to moderate (34%), severe (5%)

• Neuropsychiatric disorders including attention-deficit/hyperactivity disorder, anxiety disorders, and/or autism spectrum disorder (ASD)

• Failure to thrive and/or feeding problems in infancy that persist into childhood

• Gastrointestinal disorders including gastroesophageal reflux disease

• Ocular issues

• Dental anomalies

• Congenital heart defects, especially patent ductus arteriosus

• Subtle facial dysmorphology including a prominent forehead, prominent nasal tip, and thin vermilion of the upper lip

Source: GeneReviews — "3q29 Recurrent Deletion"

Differential Diagnosis

The differential diagnosis of the 3q29 recurrent deletion is broad due to the variable spectrum and presence of relatively common abnormal phenotypes that occur in affected individuals including developmental delay, learning problems, and neuropsychiatric disorders. All manifestations of the 3q29 recurrent deletion can also be seen in individuals with other genomic disorders.

Source: GeneReviews — "3q29 Recurrent Deletion"

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with the 3q29 recurrent deletion, 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 3q29 Recurrent Deletion

System | Evaluation | Comment

Neuro-

developmental | Eval by developmental pediatrician /or clinical psychologist | • Eval for developmental needs early intervention (e.g., PT, speech-language therapy, cognitive behavioral therapy for social skills training)

• Eval of fine motor function (e.g., OT)

• Eval for ASD, cognitive ability, for executive function deficits

Psychiatric

| Eval by child/adult psychiatrist | Eval for anxiety disorders, ADHD, emerging features of prodrome/psychosis

Neurologic

| • Eval for seizures if indicated

• Eval of muscle tone

• Brain MRI to identify posterior fossa anomalies

| Referral to neurologist as needed

Musculo-

skeletal | Clinical exam for chest anomalies, flat feet, scoliosis | Referral to orthopedist as needed

GI/Nutrition

| • Assess growth feeding

• Assess for signs/symptoms of GER, constipation, /or chronic diarrhea

|

Ocular

| Ophthalmology exam | To assess vision, evaluate for refractive errors, identify strabismus

Dental

| Dental eval for abnormal enamel tooth shape number | Initial pediatric dental eval by age 1 yr

Cardiovascular

| Eval by cardiologist echocardiogram for congenital heart disease |

Ears, nose

Source: GeneReviews — "3q29 Recurrent Deletion"

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 — "3q29 Recurrent Deletion"

Surveillance Guidelines

Table 5. Recommended Surveillance for Individuals with 3q29 Recurrent Deletion

Source: GeneReviews — "3q29 Recurrent Deletion"