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Pediatric Genetic Medicine

The McKusick-Nathans Institute of Genetic Medicine | Department of Genetic Medicine at Johns Hopkins discovers and translates the marvels of genetics into treatments and cures for children and adults. With diverse clinical and research interests, genetics faculty diagnose and care for patients in an array of specialized medical genetics clinics throughout Johns Hopkins.

Our Team

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:

Programs and Centers

Genetic Programs

  • Medical Genetics Residency Program
  • Combined Training in Pediatrics and Genetics
  • Clinical Resources

Genetics Centers

  • Center for Craniofacial Development and Disorders  
  • Chromosomal Clinic
  • Greenberg Center for Skeletal Dysplasias
  • Smilow Center for Connective Tissue Disorders

Contact Us

Johns Hopkins Institute of Genetic Medicine
733 N Broadway
Broadway Research Building
Baltimore, MD 21287
Phone: 410-955-3071
Fax: 410-614-9246

To make a clinical appointment in the pediatric genetics clinic, call 410-955-3071.

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