Skeletal Dysplasia refers to a diverse group of genetic disorders commonly known as dwarfism, affecting the development of bones and cartilage and leading to abnormalities in the size and shape of the skeleton. These conditions vary widely in severity and symptoms but often result in shorter stature, impacting mobility and overall health. There are over 400 different types of skeletal dysplasia, each driven by its own genetic mutation. Achondroplasia, the most common form, accounts for about 70% of all cases of dwarfism.

The roots of skeletal dysplasia lie in specific genetic mutations that affect bone and cartilage development. These mutations can be inherited or occur spontaneously. Diagnosis usually takes place in infancy or early childhood through physical traits and X-ray scans, with genetic testing providing precise classification. Understanding and managing these conditions require a comprehensive approach to ensure the best quality of life for those affected.

There are over 400 types of skeletal dysplasia, each with its own unique characteristics. Some of the more common types include achondroplasia, osteogenesis imperfecta, and hypochondroplasia. While each type presents its own set of challenges, early diagnosis and intervention can greatly improve quality of life.

Living with skeletal dysplasia often brings various health challenges that vary depending on the specific type. Common signs include short stature, disproportionate limb size, curvature of the spine, joint abnormalities, and breathing difficulties.

• Achondroplasia

• Hypochondroplasia

• Pseudoachondroplasia

• Diastrophic Dysplasia

• Cartilage Hair Hypoplasia

• Spondyloepiphyseal Dysplasia

• Morquio Syndrome

• Osteogenesis Imperfecta

• Multiple Epiphyseal Dysplasia

• Campomelic Dysplasia

• Thanatophoric Dysplasia

• Ellis-Van Creveld Syndrome

• Kniest Dysplasia

• Metatropic Dysplasia

• & Hundreds More!

There are various management and treatment options to increase an individual’s quality of life and functionality; physical therapy, orthopedic surgeries, and assistive devices – whatever it takes to put one foot (or wheel!) in front of the other.

The Little Legs Big Heart Foundation is committed to offering comprehensive information, including “controversial” management options like limb lengthening, the FDA approved pharmaceutical treatment VOXZOGO, emerging drug therapy trials and research. It is important to note that management suggestions for one form of skeletal dysplasia may not be appropriate for other skeletal dysplasia diagnoses because each type has its own natural history, complications, and specific recommendations.