Skeletal dysplasia (a form of dwarfism) is a medical term for hundreds of conditions that affect the growth of bone and/or cartilage, and the size of a person’s arms, legs, abdomen and head.

 

Common types of this condition include achondroplastic dwarfism, hypochondroplasia dwarfism, pituitary dwarfism, primordial dwarfism, and thanatophoric dysplasia. The most common type of dwarfism is achondroplasia, which affects 1 in 15,000 to 40,000 people in the U.S.

Skeletal dysplasia can affect anyone. Many types are genetic, which means you can inherit the condition from your parents and other forms occur randomly through DNA changes. Most often, but not always, skeletal dysplasia affects children of parents with average height.

The most common symptom is short stature. Most causes of being short are proportionate, meaning that everything is small and not just certain parts of your body. Some forms refer to short stature as disproportionate, which means that a person has an average-sized torso and short arms and legs. Other symptoms include bowed legs, flat nasal bridge, large head, prominent forehead, short limbs and digits, and wide hands and feet.

Skeletal dysplasia can be diagnosed before birth using prenatal screening. After birth, your child’s growth is tracked during annual visits. If your child did not receive an early diagnosis, a diagnosis may come later if growth milestones are missed.

The list of growth disorders on this site is not exhaustive.