Genetic Disorders


Most children are born healthy with no medical problems or birth defects. However, some children are born with differences in body structure, brain development, or body chemistry that can lead to problems with health, development, school performance, and/or social interaction. Pediatric geneticists are trained to identify the causes and natural history of these disorders. They may suggest tests and treatments that can help in understanding and caring for your child’s condition. Pediatric geneticists also can help families understand whether some conditions are hereditary (coming from the genes) and offer testing to family members who may be at risk for having children with similar problems.



 


  • Inborn errors of metabolism
  • Common chromosomal disorders
  • Muscular dystrophies
  • Congenital malformation and teratogenesis
  • Arthrogryposis
  • CHARGE Syndrome
  • Cerebrotendinous Xanthomatosis (CTX)
  • Chromosomal Breakage Syndromes

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