Tetrasomy 18p: Treatment and Surveillance
These recommendations are inclusive of the entire population of people with Tetrasomy 18p. It should be noted that there is a great deal of variation among individuals with Tetrasomy 18p. Not all complications or concerns will be listed in this document. However, the recommendations contained here should be used as a baseline for monitoring and the health of individuals with Tetrasomy 18p
Potential conditions in a neonate
- Structural
- Palate abnormality – 81%
- Heart abnormalities -47% by Echo/ECG
- Congenital orthopedic abnormalities-45%
- Hernias-12%
- Myelomeningocele-7%
- Functional
- Feeding problems – 83%
- Respiratory distress – 31%
- Biochemical
- Jaundice – 57%
Initial evaluations after diagnosis
- Ophthalmology
- Strabismus – 75%
- Refractive errors – 71%
- Audiology / Otolaryngology
- Hearing loss – 32%
- Recurrent otitis media – 57%
- Genitourinary
- Cryptorchidism – 63%
- Hypospadias – 7%
- Urinary tract anomalies – 28%
Immediate Referrals to:
- Appropriate sub-specialist as indicated by initial evaluations
- Genetics follow-up if not previous to diagnosis
- Early intervention/developmental services
- The Chromosome 18 Registry & Research Society
- The Chromosome 18 Clinical Research Center
Closely monitor and manage:
- Failure to thrive/growth failure
- Underweight (< 3rd percentile)
- Endocrinology
- Short stature (< 25th percentile)
- Growth hormone deficiency
- Otorhinolaryngology
- Recurrent otitis media
- Hearing loss
- Gastrointestinal
- Constipation
- GE reflux
- Hernias
- Eosinophilic esophagitis
- Immunology/Rheumatology
- Atopic disorders
- IgA deficiency
- Eosinphiilic esophagitis
- Orthopedics
- Congenital hip dysplasia
- Foot abnormalities
- Decreased bone mineral density
- Development
- Milestones
- School performance
- Psychometric data
- Dental
- Neurology
- Seizure
- Hypotonia
- Behavioral/mood changes
Annual Screenings
- Vision
- Hearing
Current Adult Status
Age and Cause of Death
Updated 2020
There is additional information on each of the areas mentioned above within the downloadable PDF document.
Updated 2020