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Results 1 - 9 of 9 for Diastrophic dysplasia
  1. Diastrophic dysplasia 
    Diastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals have short stature with very short arms and legs. Most also have early- ...
    https://medlineplus.gov/genetics/condition/diastrophic-dysplasia - Genetics
  2. Diastrophic Dysplasia (For Parents) (Nemours Foundation)  
    Bone Diseases/Children ... Bone Diseases ... Dwarfism/Children ... Dwarfism ... Connective Tissue Disorders/Children ... Connective Tissue Disorders ... Nemours Foundation
    https://kidshealth.org/en/parents/diastrophic-dysplasia.html - External Health Links
  3. SLC26A2 gene 
    ... gene mutations have been identified in people with diastrophic dysplasia. This disorder of cartilage and bone development has ... those of atelosteogenesis type 2 (described above), although diastrophic dysplasia tends to be less severe. Like people with ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics
  4. Atelosteogenesis type 2 
    ... similar to those of another skeletal disorder called diastrophic dysplasia; however, atelosteogenesis type 2 is typically more severe. ... type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic ...
    https://medlineplus.gov/genetics/condition/atelosteogenesis-type-2 - Genetics
  5. Bone Diseases (National Library of Medicine)  
    Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and ...
    https://medlineplus.gov/bonediseases.html - Health Topics
  6. 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
  7. Achondrogenesis 
    ... Rossi A, Superti-Furga A. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, ... type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nat Genet. 1996 Jan;12( ...
    https://medlineplus.gov/genetics/condition/achondrogenesis - Genetics
  8. 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
  9. Multiple epiphyseal dysplasia 
    ... Rossi A, Superti-Furga A. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, ...
    https://medlineplus.gov/.../condition/multiple-epiphyseal-dysplasia - Genetics