Skeletal Dysplasia Market Size, Share & Trends Analysis Report By Type (Achondroplasia, X-linked Hypophosphatemia, Hypophosphatasia), By Treatment, By Symptom, By Region, And Segment Forecasts, 2025 - 2030

Skeletal Dysplasia Market Size, Share & Trends Analysis Report By Type (Achondroplasia, X-linked Hypophosphatemia, Hypophosphatasia), By Treatment, By Symptom, By Region, And Segment Forecasts, 2025 - 2030

Skeletal Dysplasia Market Growth & Trends

The global skeletal dysplasia market size is expected to reach USD 3.85 billion by 2030, registering a CAGR of 2.0% from 2025 to 2030, according to a new report by Grand View Research, Inc. Increasing prevalence of this condition, especially in children, and growing adoption of orphan drugs are likely to contribute to the expansion of the market.

Among different disorders, achondroplasia is the most common condition. According to estimates published by the National Human Genome Research Institute in 2016, achondroplasia occurs in 1 in 15,000-40,000 live births. Although there are no current therapies approved specifically for achondroplasia, there are five therapies under clinical development.

Genetic defects attributable to the disorder include spontaneous mutations in the FGFR3 gene. Vosoritide by BioMarin targets inhibition of the FGFR3 pathway and presents a first-in-class drug for achondroplasia. The drug is in phase III clinical trial and is expected to enter the market in 2024. Clementia (Ipsen Group) and Regeneron are other market players targeting disorders such as multiple osteochondromas and fibrodysplasia ossificans progressiva (FOP). Approval of these pipeline therapies with orphan drug status during the forecast period will further support skeletal dysplasia market growth.

The medicines vary depending on the genetic cause of the disorder and only a handful of the disorders, such as XLH and hypophosphatasia, have approved curative therapies, including Ultragenyx Pharmaceuticals’ Crysvita and Alexion Pharmaceuticals’ Strensiq, respectively. Crysvita received FDA approval in 2018 whereas Strensiq received approval in 2015. The sales of Strensiq increased from USD 12.0 million in 2015 to USD 475.1 million in 2018. Higher uptake of these orphan drugs signal growth of the market.

Skeletal Dysplasia Market Report Highlights

• Hypophosphatasia (HPP) dominated the market and accounted for the largest revenue share of 48.5% in 2024 attributed to the increasing awareness and improved diagnostic capabilities, leading to more frequent diagnoses of this rare genetic disorder.
• Medications led the market and accounted for the largest revenue share of 48.5% in 2024 attributed to the advancements in drug development and increased awareness of skeletal dysplasias.
• Skeletal deformities, including parathyroid disorders, growth hormone therapies, and spinal and limb osteotomies, dominated the market and accounted for the largest revenue share of 20.9% in 2024.
• Europe skeletal dysplasia market dominated the global market and accounted for the largest revenue share of 39.4% in 2024 attributed to heightened awareness and improved diagnostic capabilities.

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