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 Counseling
- Genetic Testing
- Genetics
- Goiters and Thyroid Nodules
- Hemophilia
- Hemophilia: Handling Bleeds
- Hereditary Hemochromatosis
- Hydroxyurea for People With Sickle Cell Disease
- Hyperthyroidism and Graves’ Disease
- Hypochondroplasia
- Hypothyroidism and Hashimoto’s Thyroiditis
- If Your Baby Has a Birth Defect
- Klinefelter Syndrome
- Kniest Dysplasia
- Legius Syndrome
- Maple Syrup Urine Disease
- Marfan Syndrome
- Morquio A Syndrome
- Multiple Epiphyseal Dysplasia
- Muscular Dystrophy
- Neurocutaneous Syndromes
- Neurofibromatosis Type 1
- Newborn Screening Tests
- Noonan Syndrome
- Phenylketonuria (PKU)
- Pierre Robin Syndrome
- Primordial Dwarfism
- Pseudoachondroplasia
- Pyruvate Kinase Deficiency
- RASopathies
- Sanfilippo Syndrome
- Sickle Cell Disease (Topic Center)
- Sickle Cell Trait
- Sickle Cell Trait (Topic Center)
- Spondyloepiphyseal Dysplasia Congenita (SEDc)
- Tay-Sachs Disease
- Thyroid Disease
- Thyroid Tests
- Treacher Collins Syndrome
- Triple X Syndrome
- Tuberous Sclerosis Complex
- Turner Syndrome
- Williams Syndrome
- XYY Syndrome