Cystic fibrosis- The most common congenital disease, in which the child's lungs, intestines and pancreas fill up with think mucus.
Dysmorphology - The study of physical characteristics to diagnose disorders.
Krabbe disease - A degenerative disorder that affects the nervous system, and is a lysosomal storage disorder.
Lysosomal storage diseases - A group of about 40 rare inherited metabolic disorders.
Neurocutaneous disorders - Disorders that lead to abnormal growth and development of nerve cells and tissues.
Neurofibromatosis - A neurocutaneous genetic disorder causing development of tumors of the nerves.
Phenylketonuria - An inherited disorder in which the body cannot process phenylalanine, an amino acid found in many foods.