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Johns Hopkins Children’s Center

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Conditions We Treat

Approximately 1 in 10 people have a rare, genetic condition. Our experts in the Pediatric and Adult Genetics Clinic work with you to determine a diagnosis and treatment plan to help you best manage your genetic condition. 

Teams of genetic counselors and physicians who are among the world’s experts in genetic conditions provide these services to adults and children who have genetic conditions including: 

  • Abnormal newborn screening results
  • Birth defects
  • Craniofacial disorders  
  • Chromosome anomalies
  • Connective tissue disorders
  • Craniosynostosis
  • Dysplasia  
  • Hirschsprung’s disease
  • Hypotonia    
  • Inborn errors of metabolism
  • Lysosomal storage disease cleft and craniofacial
  • Marfan syndrome   
  • Skeletal dysplasias

Additional pediatric genetic specialty clinics located outside the Institute of Genetic Medicine but within Johns Hopkins University, including the Hopkins Children’s Center and the Kennedy Krieger Institute, provide care for: 

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