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Results 1 - 5 of 5 for Spondyloepimetaphyseal dysplasia
  1. Spondyloepimetaphyseal dysplasia, Strudwick type 
    Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in short stature (dwarfism), skeletal abnormalities, and problems with ...
    https://medlineplus.gov/...loepimetaphyseal-dysplasia-strudwick-type - Genetics
  2. ACAN gene 
    ... Two other conditions associated with short stature, called spondyloepimetaphyseal dysplasia, aggrecan type and spondyloepiphyseal dysplasia, Kimberley type, are ...
    https://medlineplus.gov/genetics/gene/acan - Genetics
  3. COL2A1 gene 
    ... the COL2A1 gene have been found to cause spondyloepimetaphyseal dysplasia, Strudwick type. This disorder of bone growth is ... with vision. The COL2A1 gene variants that cause spondyloepimetaphyseal dysplasia, Strudwick type all change single amino acids in ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  4. Connective Tissue Disorders (National Library of Medicine)  
    Your connective tissue supports many different parts of your body, such as your skin, eyes, and heart. It is like a "cellular glue" that gives your body parts ...
    https://medlineplus.gov/connectivetissuedisorders.html - Health Topics
  5. Dwarfism (National Library of Medicine)  
    People with dwarfism have short stature. This means that their height is under 4' 10" as an adult. They are usually of normal intelligence. Dwarfism most often ...
    https://medlineplus.gov/dwarfism.html - Health Topics