Pediatric genetics services are offered through our partnership with the Waltham-based National Birth Defects Center. Newborns, children and adults are treated by a pediatric geneticist who specializes in the diagnosis and management of inherited conditions. The specialist evaluates unexplained developmental delay and provides prenatal counseling concerning all aspects of genetically transmitted disease. Consult is available to parents of already affected children as well as individuals at risk for a particular condition.
Pediatric geneticists from the National BIrth Defects Center in Waltham see patients at MassGeneral for Children at North Shore Medical Center in Salem.
Conditions treated include:
- Chromosomal disorders (such as Down syndrome, Fragile X syndrome and sex chromosome aneuploidies)
- Neurogenetic disorders (such as Neurofibromatosis and Tuberous Sclerosis)
- Craniofacial disorders
- Skeletal dysplasias and other congenital anomalies