Genetics & Metabolism
The conditions we most commonly diagnose and treat are:
- Known or suspected metabolic disorders
- Hearing loss and blindness
- Autism
- Phenylketonuria
- Marfan syndrome
- Achondroplasia
- Velocardiofacial syndrome
- Cleft lip and palate
- Myelomeningocele
- Urea cycle disorders
- Muscular dystrophy
- Down syndrome and other chromosome disorders
- Lysosomal storage diseases