Medical Genetics Clinic

Who should request an appointment?

Our team has expertise in the diagnosis and management of patients with a wide variety of genetic conditions and/or constellation of medical problems. Typically, reasons for referral include:

• Abnormal newborn screening results
• Birth defects
• Chromosome anomalies
• Connective tissue disorders
• Craniosynostoses
• Developmental delay/mental retardation
• Hearing loss
• Hypotonia
• Inborn errors of metabolism
• Skeletal dysplasias
• Tumor disorders

Individuals with family members who have a genetic condition are also referred to clarify their risk for inheriting and/or passing on the genetic condition.

There are also genetic services located outside the Institute of Genetic Medicine, but within the Johns Hopkins University and/or Kennedy Krieger Institute. Some of these specialty clinics include:

• Arrhythmogenic Right Ventricular Dysplasia (ARVD)
  
• Ataxia Telangectasia (AT)
  
• Breast, Ovarian, and Colon Cancer
  
• Cystic fibrosis
  
• Down syndrome
  
• Familial cardiomyopathy
  
• Hemophilia
  
• Huntingtondisease
  
• Lipid disorders
  
• Prenatal diagnosis
  
• Sickle cell disease