Genetic diseases in children: we’re prepared for anything

• Abnormal newborn screening results
• 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
• Cardiac arrhythmias
• Cardiovascular conditions, such as cardiomyopathy, atrioventricular septal defect, hypoplastic left heart syndrome, and ventricular septal defect
• CHARGE syndrome
• Chromosomal abnormalities
• Cognitive impairment
• Connective tissue abnormalities (abnormal bones or joints)
• Craniofacial abnormalities such as Pierre Robin sequence
• Cystic fibrosis and positive newborn screening results for cystic fibrosis
• Dental abnormalities
• Developmental delays that may have a genetic component
• Down syndrome
• Ehlers-Danlos syndrome
• Epilepsy and seizure disorders
• Eye problems
• Failure to thrive
• Fragile X syndrome
• Family history of genetic condition
• Hearing loss
• Hematology/oncology (cancer and blood) conditions
• Holt-Oram syndrome
• Hypertrophic cardiomyopathy
• Hypermobility spectrum disorders
• Klinefelter syndrome (47, XXY)

• 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
• Metabolic conditions (PKU, tyrosinemia, MCAD)
• Microcephaly (small head)
• Mitochondrial conditions
• Neurofibromatosis Type 1
• Neurocutaneous syndromes, such as neurofibromatosis, tuberous sclerosis, and other disorders that affect the skin and brain
• Noonan syndrome
• Osteogenesis imperfecta
• Overgrowth conditions
• Pierpont syndrome
• Prader-Willi syndrome
• Primary ciliary dyskinesia
• Rett syndrome
• Short stature
• Sickle cell disease and carriers
• Skeletal dysplasias
• Skin or hair abnormalities
• Spina bifida
• Stickler syndrome
• Supravalvular aortic stenosis
• Tall stature
• Trisomy X (47, XXX)
• Tuberous sclerosis complex
• Turner syndrome
• Distinctive facial features
• VACTERL, also known as VATER
• Velocardiofacial syndrome, also known as 22q11 deletion disorder or DiGeorge syndrome
• Williams syndrome

Genomic medicine services

There’s no one else with the exact same genetic makeup as your child. While there are countless genetic conditions and disorders, each child is unique in how the condition affects him or her.

We pride ourselves on delivering personalized care based on your child’s unique diagnosis, symptoms, development and more. Here’s a snapshot of some of the services you may encounter when visiting the genomic medicine clinic:

• Diagnose and evaluate genetic conditions through a physical exam and/or genetic testing
• Provide clinical management of inherited genetic disorders
• Connect you with community resources and support groups
• Coordinate appointments with pediatric subspecialists
• Use targeted treatments such as enzyme replacement therapy, which helps manage symptoms of lysosomal storage diseases
• Meet with a genetic counselor, who provides information and education about rare genetic disorders, inheritance patterns and recurrence risks
• Write summaries for your child’s primary care clinician and other clinicians involved in your child’s care

Multidisciplinary clinics for genetic conditions

In addition to the genetics clinic, we offer multidisciplinary clinics, which are dedicated to providing concentrated, coordinated care for specific genetic conditions. These include:

• Neurocutaneous clinic
• Down syndrome clinic
• Cystic fibrosis clinic
• Primary ciliary dyskinesia (PCD) clinic
• Hemoglobinopathy and sickle cell disease clinic
• Oncology clinic
• Children’s Center for bleeding and clotting disorders
• Cleft and Craniofacial clinic
• Velocardiofacial syndrome clinic