Pediatric Specialties — Genetics
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Definitions

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.