Main: (702) 333-7000

Appointments: (702) 732-3330

Fax: (702) 732-1080


1 Breakthrough Way, Las Vegas NV 89135

4425 S. Pecos Rd. Ste. 6, Las Vegas NV 89121




A skeletal dysplasias are rare genetic disorders resulting in abnormal development of bones, joints, and cartilage, occurring in approximately one of every 5,000 live births. Over 450 types of skeletal dysplasia have been diagnosed. Many children with skeletal dysplasias have short stature.



Some skeletal dysplasias involve changes in genes that code for collagen or other structural elements of bone.  Others involve misregulation of signaling pathways in bone development including HH, PTHrP, WNT, NOTCH, TGF-β, BMP, FGF, and transcription factors SOX9, RUNX2, and OSX.  Different mutations in the same gene can lead to different types of dysplasia.

Some types of dysplasia include the following:

Condition      Manifestations     Gene      Inheritance

Achondroplasia    Fibroblast Growth Factor Receptor-3 (FGF-R3)    AD

Multiple Epiphyseal Dysplasia    Cartilage Oligomeric Matrix Protein (COMP) or 

Spondyloepiphyseal Dysplasia

Schmidt Dysplasia

Janssen Dysplasia   

Hypophosphatasia, Congenital


Osteogenesis Imperfecta   Collagen Type I

Diastrophic Dysplasia   Sulfate Transporter

AD = Autosomal Dominant

OMIM (Online Mendelian Inheritance in Man) Number



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In 2021, we ranked as #4 among the nation’ top 50 Non Profit organizations to work for, by Non Profit Times, moving up 19 places since 2019. This coveted award is primarily based on employee satisfaction surveys in the following areas:  Leadership and Planning, Culture and Communication, Training, Development and Resources.


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For the last two years, we’ve won ‘Best of Las Vegas’ 
Best Cancer Treatment Center
and Best Charity Event (Circus Couture).