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Conditions We Treat

The most common genetic and metabolic conditions we care for include:

• Birth defects March of Dimes
• Chromosome abnormalities
• Cystic fibrosis
• Developmental disabilities
• Fragile X syndrome
• Neurofibromatosis
• Marfan syndrome
• Prader-Willi and Angelman syndrome
• Skeletal dysplasias
• Inborn errors of metabolism, including:
  • Medium-Chain Acyl-CoA Dehydrogenase deficiency (MCADD)
  • Phenylketonuria (PKU)