Genetic, Chromosomal & Metabolic Conditions
Learn about conditions that can be caused by changes in our genes.
- 22q11.2 Deletion Syndrome (DiGeorge Syndrome)
- Achondroplasia
- Albinism
- Alpha Thalassemia
- Ataxia-Telangiectasia
- Beta Thalassemia
- Birth Defects
- Campomelic Dysplasia
- Cardiofaciocutaneous (CFC) Syndrome
- Cartilage Hair Hypoplasia
- Charcot-Marie-Tooth Disease (CMT)
- CLOVES Syndrome
- Congenital Adrenal Hyperplasia
- Congenital Hypothyroidism
- Costello Syndrome
- Diamond-Blackfan Anemia
- Diastrophic Dysplasia
- Down Syndrome
- Duchenne Muscular Dystrophy
- Dwarfism
- Ellis-Van Creveld Dysplasia
- Epigenetics
- Familial Hypercholesterolemia (FH)
- Fanconi Anemia
- G6PD Deficiency
- Galactosemia
- Gene Changes (Mutations)
- Genetic Conditions: How Do They Run in Families?
- Genetic Counseling
- Genetic Testing