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
• CLOVES Syndrome
• Campomelic Dysplasia
• Cardiofaciocutaneous (CFC) Syndrome
• Cartilage Hair Hypoplasia
• Charcot-Marie-Tooth Disease (CMT)
• 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

Note: All information is for educational purposes only. For specific medical advice, diagnoses, and treatment, consult your doctor.

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