Skeletal Dysplasias


Lead Author(s): 

Scott B. Rosenfeld, MD
Brielle Payne Plost, MD

Supporting Author(s): 

Sylvia I. Watkins-Castillo, PhD

Skeletal dysplasias, also referred to as osteochondrodysplasias, are a heterogeneous group of disorders that affect the growth and development of bone and cartilage. There is great variability of severity and involvement ranging from neonatal lethality to mild growth differences noted incidentally in adulthood. Hundreds of such dysplasias have been described, but most are so rare that true incidence is difficult to estimate.1 The most common diagnoses included in this category are chondrodysplasia, achondroplasia, hypochondroplasia, dwarfism, congenital absence of rib, osteogenesis imperfecta, osteopetrosis, as well as other dysplasias. The overall incidence of skeletal dysplasias is two to five per 10,000 live births.2 Despite their relative rarity, many patients with these disorders require extensive medical and surgical treatments throughout their childhood and into adulthood.

Healthcare Utilization

Skeletal dysplasias were diagnosed in 235,800 children and adolescent healthcare visits in 2013, accounting for the primary diagnosis in 47,500 of these visits. (Reference Table 7C.1.1 PDF CSV and Table 7C.1.2 PDF CSV)

Males were slightly more likely to be hospitalized for both any musculoskeletal diagnosis as well as a primary diagnosis of dysplasia. Children from age 1 to 4 were most likely to be hospitalized with any diagnosis while children from 1 to 4 years and 10 to 17 years were equally likely to be hospitalized with a primary diagnosis of skeletal dysplasia. (Reference Table 7C.9 PDF CSV

Skeletal dysplasias as a primary diagnosis accounted for 0.3% of hospitalizations for any musculoskeletal diagnosis and 0.02% of hospitalizations for any condition. However, it is often the case that the primary diagnosis would reflect the problem associated with the condition rather than the condition itself. For example, with platyspondyly (flattened spinal bones), curvature of the lower back (lordosis) would be the diagnosis rather than dysplasia.

Hospital Charges

Total charges averaged $106,100 for a mean 10-day stay when hospitalized with a diagnosis of skeletal dysplasia with other medical conditions. With a primary diagnosis of skeletal dysplasia, the average stay was 8.6 days and cost $96,500. Mean length of stay and charges were highest in neonates. Total charges in 2013 were $144.8 million. (Reference Table 7C.9 PDF CSV)

  • 1. Kornak U, Mundlos S. Genetic disorders of the skeleton: A developmental approach. Am J  Hum Genet 2003;73(3):447-774.
  • 2. Frassier F, Hamdy RC. Arthrogrypotic Syndromes and Osteochondrodysplasias. In: Abel MF, ed. Orthopaedic Knowledge Update Pediatrics. 3rd ed. Rosemont, IL: American Academy of Orthopaedic Surgeons; 2006:137-151.


  • Fourth Edition

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