A genetic condition that limits the growth of bones and may result in different medical complications1,2
A strong, flexible connective tissue that lines the joints and gives structure to the nose, ears, and other parts of the body. Cartilage is more widespread in the infant skeleton and is replaced by bone during growth1,3
The main type of cell that makes cartilage4
Fibroblast growth factor receptor 3
FGFR3 is a gene that provides instructions to make the FGFR3 protein. This protein regulates bone growth by limiting the formation of bone from cartilage, especially in the long bones5
A condition in which the opening at the base of the skull becomes narrowed, putting pressure on the brain or spinal cord2,6
A condition in which the knees curve out when standing with the feet and ankles together. This is also known as bowed legs7
A disc made of cartilage that sits at the end of a bone, where bone growth occurs. When children are fully grown, the cartilage in their growth plates hardens into bone8
Poor muscle tone. An infant with hypotonia may feel limp when held and have trouble holding up their head9
A condition in which an excessive curving of the spine results in an exaggerated rounding of the upper back1
A condition in which excessive curving of the spine results in an exaggerated arching of the lower back1
A condition where body weight is greater than what is considered healthy for height. This condition may lead to orthopedic complications like pain and reduced mobility in joints 2,10
A sleep disorder in which breathing stops and restarts many times during sleep11
A condition that affects how cartilage and bone grow6
A condition that occurs when the canal that contains the spinal cord is too narrow, which puts pressure on the spinal cord and nerves. Spinal stenosis can occur at different parts along the spine including cervical (neck) and lumbar (lower back)12,13