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Genetics

 

Conditions


Through proper diagnosis and evaluations, our specialists in genetics at the Children’s Hospital are able to help patients and their families understand their genetic conditions, birth defects and other disorders.

Conditions affecting infants, children and adolescents with genetic diseases include:

  • Intellectual disability

  • Autism, Chromosome anomalies, such as: 
    • Trisomy 21, 13, 18
    • Turner
    • Klinefelter syndrome

  • Microdeletion/ duplication syndromes

  • Single gene disorders, such as: 
    • Connective tissue disorders
    • Neurocutaneous disorders such as Neurofibromatosis type I and tuberous sclerosis

  • Connective tissue disorders

  • Sensorineural hearing loss

  • Familial cancer predisposition syndromes

  • Craniosynostoses

  • Skeletal Dysplasias

  • Abnormal newborn screening results

  • Inborn errors of metabolism

  • Other Genetic syndromes