If your child’s been referred to Nemours for a possible diagnosis of skeletal dysplasia (such as achondroplasia), you’ve come to the right place. We’re one of the foremost health care systems in the world for skeletal dysplasia and dwarfism diagnosis and treatment — offering comprehensive medical and surgical expertise spanning multiple fields.
The skeletal dysplasias are a group of conditions characterized by abnormalities in the growth, development, shape, or integrity of the bones and cartilage. They can lead to a wide variety of medical problems, but the most common feature among them is dwarfism (defined as having a final adult height below 4' 10").
About one out of every 10,000 babies has dwarfism. Most skeletal dysplasias result from a spontaneous genetic mutation at or before conception. Children with skeletal dysplasias have multiple medical and social needs, many of which are unique to their condition.
Common types of skeletal dysplasia include:
- Campomelic Dysplasia
- Cartilage Hair Hypoplasia
- Diastrophic Dysplasia
- Ellis-Van Creveld Dysplasia
- Kniest Dysplasia
- Metatropic Dysplasia
- Morquio Syndrome
- Multiple Epiphyseal Dysplasia
- Primordial Dwarfism
- Spondylo-epiphyseal Dysplasia
- Thanatophoric Dysplasia