Genetic, Chromosomal & Metabolic Conditions

• Charcot-Marie-Tooth Disease (CMT)

  Charcot-Marie-Tooth disease (CMT) is a neurological disorder that causes muscle weakness and numbness, most often in the arms and legs.

• CLOVES Syndrome

  CLOVES syndrome is a very rare genetic disorder that causes vascular, skin, spinal, and bone or joint abnormalities.

• Congenital Adrenal Hyperplasia

  Congenital adrenal hyperplasia (CAH) affects the adrenal glands, which make important hormones. Symptoms depend on a child’s age, sex, and which hormones the adrenal glands make too little or too much of.

• Congenital Hypothyroidism

  Some babies are born with a thyroid gland that didn’t develop correctly or doesn’t work as it should. This is called congenital hypothyroidism.

• Costello Syndrome

  Costello syndrome is a very rare disorder that affects multiple organ systems. It causes causes problems that affect a child’s heart, muscles, bones, skin, brain, and spinal cord.

• Diamond-Blackfan Anemia

  Diamond-Blackfan anemia happens when bone marrow doesn’t make enough red blood cells. It also can cause physical changes in their heart, head, and upper body.

• Diastrophic Dysplasia

  Diastrophic dysplasia is a skeletal dysplasia. People who have it are generally shorter than average in height.

• Down Syndrome

  In Down syndrome, an extra chromosome causes delays in the way a child develops, mentally and physically. But many resources are available to help kids who have it and their families.

• Duchenne Muscular Dystrophy

  Duchenne muscular dystrophy is the most common form of muscular dystrophy. It gradually makes the body’s muscles weaker.

• Dwarfism

  Dwarfism is a condition that is characterized by short stature. Many of the possible complications of dwarfism are treatable, and people of short stature lead healthy, active lives.