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Coronavirus Update:What patients and families need to know

Pediatric Achondroplasia

Key Points About Achondroplasia in a Child

  • Achondroplasia is a type of rare genetic bone disorder. The strong, flexible tissue called cartilage is not made into bone as normal.
  • People with achondroplasia have normal intelligence and normal lifespan. 
  • Achondroplasia is a genetic disease. Most cases of achondroplasia are from a new gene mutation in families. This means the parents are average height and do not have the abnormal gene.
  • Signs can include short arms and legs, large head and flattened bridge of nose.
  • Achondroplasia can be diagnosed before birth by fetal ultrasound.
  • Different kinds of treatment can be done to help relieve problems caused by the condition.
  • Living with achondroplasia means watching for possible complications and managing problems that occur.
  • Federal laws protect your child's right to a free and appropriate public education.
  • Groups such as Little People of America and the Magic Foundation can give support and information to your family and your child.
Departments

Departments

Skeletal Dysplasia Clinic

For more than 25 years, the Skeletal Dysplasia Clinic has provided multidisciplinary care for infants, children, and young adults with various forms of skeletal disorders.

Cancer Genetics Program

Our cancer genetics experts help answer important questions about your child’s inherited risk for cancer.

Rare Disease Institute

Children’s National Rare Disease Institute (CNRDI) is a first-of-its-kind center focused exclusively on advancing the care and treatment of children and adults with rare genetic diseases.