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conditions we treat

Our genes help make us unique. Inherited from our parents, they go far in determining our physical traits — like eye color and the color and texture of our hair. They also determine things like whether babies will be male or female, the amount of oxygen blood can carry, and the likelihood of getting certain diseases.

Our genetics specialist see patients of all ages, children and adults, at any time in the lifecycle and with any of the following concerns:

  • Birth defects (examples include cleft palate, congenital heart disease and spina bifida)
  • Chromosome disorders (examples include Down syndrome, trisomy 18 and 5p minus)
  • Connective tissue disorders (examples include Ehlers Danlos sydrome (EDS), osteogenesis imperfecta (OI), and Marfan syndrome)
  • Developmental delay and intellectual disability (genetic causes include Fragile X, 22q deletion, Prader Willi syndrome and Angelman syndrome)
  • Hereditary cancers (examples include hereditary breast ovarian cancer, Lynch syndrome, familial adenomatous polyposis (FAP) and Li-Fraumeni syndrome)
  • Hereditary cardiovascular disorders (examples include hypertrophic cardiomyopathy and Long QT)
  • Hereditary hearing loss
  • Metabolic disorders (examples include phenylketonuria (PKU) and galactosemia)
  • Neurocutaneous disorders (examples include neurofibromatosis and tuberous sclerosis)
  • Other genetic conditions including hereditary disorders of the:
    • Bone and skeletal system (examples include achondroplasia and multiple epiphyseal dysplasia)
    • Face and head (examples include Treacher-Collins syndrome and velocardiofacial syndrome)
    • Eye (examples include retinitis pigmentosa, microphthalmus, optic atrophy)
    • Gastrointestinal (GI) tract: (examples include hereditary pancreatitis, hemochromatosis, and alpha-1-antitrypsin deficiency)
    • Kidney: (examples include polycystic kidneys and Alport syndrome)
    • Neuromuscular system: (examples include muscular dystrophy, myotonic dystrophy, spinal muscular atrophy, Huntington’s disease, hereditary ataxias, and Charcot Marie Tooth)
    • Skin and hair: (examples include ichthyoses and ectodermal dysplasia)
contact us appointments

The genetics department welcomes phone calls to 937- 641-3800 during our normal business hours of 8:00 am to 5:00 pm.

A physician referral is necessary prior to the child’s first outpatient visit. All follow up appointments will be made during your clinic visit or by calling central scheduling 937-641-4000.