Genetic, Chromosomal & Metabolic Conditions

• 22q11.2 Deletion Syndrome (DiGeorge Syndrome)

  22q11.2 deletion syndrome (also called DiGeorge Syndrome) is a genetic condition that can cause a variety of physical and behavioral problems.

• Achondroplasia

  Achondroplasia is a condition that causes short stature (an adult height less than 4 feet, 10 inches). Treatment can help with related problems, and new research offers hope for even better treatments.

• Albinism

  Humans, animals, and even plants can have albinism, a condition that gives people a kind of pale appearance. Find out more about albinism here.

• Alpha Thalassemia

  Alpha thalassemia is a blood disorder in which the body has a problem producing alpha globin, a component of hemoglobin, the protein in red blood cells that transports oxygen throughout the body.

• Ataxia-Telangiectasia

  Ataxia telangiectasia is a rare genetic condition. Children with the condition have uncoordinated movements that get worse over time.

• Beta Thalassemia

  Beta thalassemia is a blood disorder in which the body has a problem producing beta globin, a component of hemoglobin, the protein in red blood cells that transports oxygen throughout the body.

• Birth Defects

  Some birth defects are minor and cause no problems. Others can be serious and require lifelong treatment.

• Campomelic Dysplasia

  People with campomelic dysplasia usually have bent long bones and can have severe breathing problems. A team of specialists will care for a child when medical problems come up.

• Cardiofaciocutaneous (CFC) Syndrome

  Cardiofaciocutaneous (CFC) syndrome is a rare genetic condition. It affects the heart, facial features, and skin.

• Cartilage Hair Hypoplasia

  Kids with cartilage hair hypoplasia have differences with the growth of their bones. With regular medical care, most kids can live a full, healthy life.