At Children’s, we specialize in working with children who have complex medical needs and birth defects. Families already may have a diagnosis. We work with parents to identify causes, evaluate options, discuss prognoses, plan treatments, and address recurrence risks. Team members have special expertise in evaluation of many complex medical conditions, including lysosomal storage diseases, autism, syndromes with cardiovascular components, craniofacial abnormalities, cystic fibrosis, down syndrome, hematology/oncology (cancer and blood) conditions, and neurocutaneous syndromes.

Because we see families who have a specific diagnosis and those still searching for the causes of their child’s medical problems, we evaluate a wide variety of conditions and symptoms. Some of the more common problems include:

  • 1p36 deletion
  • Ambiguous genitalia
  • Angelman syndrome
  • Anosmia (impaired sense of smell)
  • Alagille syndrome
  • Autism spectrum disorders that may have a genetic cause or component
  • Birth defects
  • Birthmarks
  • Brain abnormalities
  • Cardiovascular conditions such as cardiomyopathy, atrioventricular septal defect,
    hypoplastic left heart syndrome
    , and ventricular septal defect
  • CHARGE syndrome
  • Chromosomal abnormalities
  • Cognitive impairment or mental retardation
  • Connective tissue abnormalities (abnormal bones or joints)
  • Craniofacial abnormalities such as Pierre Robin sequence
  • Cystic fibrosis
  • Dental abnormalities
  • Developmental delays that may have a genetic component
  • Down syndrome
  • Ehlers-Danlos syndrome
  • Eye problems
  • Failure to thrive
  • Fragile X syndrome
  • Hearing loss
  • Hematology/oncology (cancer and blood) conditions
  • Holt-Oram syndrome
  • Huntington disease
  • Hypertrophic cardiomyopathy
  • Klinefelter syndrome
  • Learning disability or learning problems
  • Loeys-Dietz syndrome
  • Loss of developmental milestones
  • Lysosomal storage diseases such as MPS I (Hurler syndrome, Hurler-Scheie syndrome, Scheie syndrome), MPS II (Hunter Syndrome), MPS III (Sanfilippo syndrome), MPS VI (Maroteaux-Lamy syndrome), Gaucher disease, Fabry disease, or Pompe disease
  • Macrocephaly (large head)
  • Marfan syndrome
  • Microcephaly (small head)
  • Neurofibromatosis Type 1 | Hmong, Somali, Spanish
  • Neurocutaneous syndromes, such as neurofibromatosis, tuberous sclerosis, and other disorders that affect the skin and brain
  • Noonan syndrome
  • Osteogenesis imperfecta
  • Overgrowth
  • Pierpont syndrome
  • Prader-Willi syndrome
  • Rett syndrome
  • Short stature
  • Skin or hair abnormalities
  • Spina bifida
  • Stickler syndrome
  • Supravalvular aortic stenosis
  • Tuberous sclerosis complex | Hmong, Somali, Spanish
  • Turner syndrome
  • Unusual facial features
  • VACTERL, also known as VATER
  • Velocardiofacial syndrome, also known as 22q11 deletion disorder or DiGeorge syndrome
  • Williams syndrome

Contact Us

  • If you are a family member and want to make an appointment, call Children’s genetics clinic at (612) 813-7240. Clinic hours are Monday through Friday from 8:00 a.m. – 4:30 p.m.
  • If you are a health professional looking for a consultation or referral information, please call Children's genetics clinic at (612) 813-7240 or Children’s Physician Access at 1-866-755-2121 (toll-free). Consultation and admission is available 24 hours per day, seven days per week.