Skeletal Dysplasias & Disorders

The Skeletal Dysplasias

There are 206 bones in the human body that together form our skeleton. When the bones in the skeleton do not form or develop normally they are said to be dysplastic. The skeletal dysplasias are a group of medical conditions in which the bones of the skeleton are abnormal. The conditions are characterized by abnormal growth, development, shape or integrity of the bones. There are over 372 distinct skeletal dysplasias, which are recognized. In 2006, a revised classification for the skeletal dysplasias was adopted. This scheme assembled the individual dysplasias into 37 groups based upon a combination of molecular and structural features(1).

The skeletal dysplasias can lead to a wide variety of medical problems. Perhaps the most common feature of these conditions is dwarfism. Included in the definition of dwarfism is having a final adult height below 4 feet 10 inches. Children with skeletal dysplasias have multiple medical and social needs. Although some of these difficulties, like short stature, are similar between the dysplasias; some difficulties can be unique to each condition.

It is our intention to provide a concise overview of the more common dysplasias that are seen in our clinics. We hope that this information will be a resource for patients, families and physicians. The construction of this website will be a gradual process as new conditions and updates to existing information will be ongoing.

• Superti-Furga A. Unger S. Nosology and classification of genetic skeletal disorders-2006 revision.
• Am J Med Genet. 2007 Jan 1;143(1):1-18.

• Achondroplasia
• Campomelic Dysplasia
• Cartilage Hair Hypoplasia
• Diastrophic Dysplasia
• Ellis-Van Creveld Dysplasia
• Hypochondroplasia
• Kniest Dysplasia
• Metatropic Dysplasia
• Morquio Syndrome
• Multiple Epiphyseal Dysplasia
• Pseudoachondroplasia
• Spondylo-epiphyseal Dysplasia
• Thanatophoric Dysplasia
• Primordial Dwarfism