A note to families, caregivers, and people with 3q29 deletion syndrome as you advocate for care – this page was intended to help physicians coordinate the most appropriate care based on up-to-date research. It’s also here for you to read, download, and share with your health team as needed (download pdf for printing here).

The table below offers evidence-based recommendations for the evaluation and management of individuals with 3q29 deletion syndrome. This information was adapted from the manuscript “Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care,” published in the peer-reviewed journal Genetics in Medicine (see Sanchez Russo et al, 2021).

Developmental and cognitive evaluations may be performed by state agencies or school systems as well as by medical professionals. These entities may also provide recommendations, services, and interventions. Because the medical and educational systems often do not interact with one another, families sometimes will receive conflicting or contradictory information.

Communication is key: be sure to share with your physician the information you have received from other sources so that your medical team can incorporate this information as they develop a treatment plan.

Summary of Recommendations

System Evaluation When Management and Recommendations
Ocular Follow-up with ophthalmologist At diagnosis
  • Vision screening to monitor for refractive errors and strabismus
  • Strabismus may require patching or surgery
Ears, nose, throat (ENT) Follow-up with otolaryngology (ENT) As Needed
  • Hearing screening
  • Monitoring recurrent ear infections and epistaxis
  • Standard surgical management as required
Dental Ongoing follow-up with dentist for abnormal enamel, tooth shape, and number Ongoing
  • Initial pediatric dental evaluation by 1 year of age
  • May need increased frequency of checkups and cleanings
  • Dental care may require assistance with daily brushing and flossing
Cardiovascular Evaluation by cardiologist At diagnosis
  • Echocardiogram
  • Evaluation in infancy for evidence of congenital cardiovascular disease
  • Referral to cardiologist and/or cardiothoracic surgeon as needed
Gastrointestinal Consider referral to gastroenterologist and/or feeding specialist or nutritionist As needed
  • Consider evaluation for feeding and growth as indicated
  • Behavioral and/or medical treatment of constipation, if persistent
  • Age-specific treatment for reflux, including testing for food allergies
Renal Follow-up with urologist As needed
  • Consider evaluation for enuresis, if persistent
  • Consider behavioral interventions, including alarm techniques, if indicated
  • May require evaluation of medications that could contribute to enuresis
Musculoskeletal Referral to orthopedist as needed As needed
  • Evaluation for chest anomalies and flat feet
  • Routine screening for scoliosis
Pulmonary and Sleep Referral to pulmonologist/sleep clinic, as needed As needed
  • Sleep study, as needed
  • Recommendations for implementing healthy sleep hygiene habits
  • Management of sleep disturbance, as needed
Allergy and Immunology Referral to specialist as needed As needed
  • Allergy testing, as needed
  • Standard management for asthma, allergies, and eczema
  • Assess for food allergies
Neurological Referral to neurologist, as needed At diagnosis and ongoing
  • Evaluation for seizures, if indicated
  • Evaluation of muscle tone, if indicated
Neurodevelopmental Referral to developmental pediatrician and/or clinical psychologist Follow-up throughout early childhood
  • Evaluation for autism spectrum disorder, cognitive ability, executive function deficits
  • Evaluation for developmental needs and earlyvintervention (e.g., physical therapy, speech–language therapy, cognitive behavioral therapy for social skills training)
  • Evaluation of fine motor function and intervention (e.g., occupational therapy)
  • Adaptive behavior (e.g., social skills training)
Psychiatric Referral to child/adult psychiatrist Childhood to early adult
  • Periodic evaluation for anxiety disorders, attention deficit hyperactivity disorder, emerging features of prodrome/psychosis
  • Cognitive behavioral therapy for anxiety
  • Medications for anxiety, attention deficit–hyperactivity disorder (ADHD), psychosis may be indicated