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Results 1 - 10 of 21 for Spondyloepiphyseal dysplasia
  1. X-linked spondyloepiphyseal dysplasia tarda 
    X-linked spondyloepiphyseal dysplasia tarda is a condition that impairs bone growth and occurs almost exclusively in males. The name of the condition indicates ...
    https://medlineplus.gov/...linked-spondyloepiphyseal-dysplasia-tarda - Genetics
  2. Spondyloepiphyseal dysplasia with metatarsal shortening 
    Spondyloepiphyseal dysplasia (SED) with metatarsal shortening (formerly called Czech dysplasia) is an inherited condition that affects joint function and bone development. ...
    https://medlineplus.gov/...seal-dysplasia-with-metatarsal-shortening - Genetics
  3. Spondyloepiphyseal dysplasia congenita 
    Spondyloepiphyseal dysplasia congenita is an inherited bone growth disorder that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and ...
    https://medlineplus.gov/.../spondyloepiphyseal-dysplasia-congenita - Genetics
  4. CHST3-related skeletal dysplasia 
    ... have been used to describe the condition include spondyloepiphyseal dysplasia, Omani type; humero-spinal dysostosis; and chondrodysplasia with ... SED with luxations, CHST3 type SED, Omani type Spondyloepiphyseal dysplasia with congenital joint dislocations Spondyloepiphyseal dysplasia, Omani type ...
    https://medlineplus.gov/.../chst3-related-skeletal-dysplasia - Genetics
  5. COL2A1 gene 
    ... Health Condition A specific COL2A1 gene variant causes spondyloepiphyseal dysplasia (SED) with metatarsal shortening, a condition that affects ... the COL2A1 gene have been found to cause spondyloepiphyseal dysplasia congenita, another disorder of bone growth that causes ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  6. Pseudoachondroplasia 
    ... disorder in their family. PSACH Pseudoachondroplastic dysplasia Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Genetic Testing Registry: Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome ...
    https://medlineplus.gov/genetics/condition/pseudoachondroplasia - Genetics
  7. Progressive pseudorheumatoid dysplasia 
    ... of the condition. Progressive pseudorheumatoid arthropathy of childhood Spondyloepiphyseal dysplasia tarda with progressive arthropathy Genetic Testing Registry: Progressive ...
    https://medlineplus.gov/.../progressive-pseudorheumatoid-dysplasia - Genetics
  8. Spondyloepiphyseal Dysplasia Congenita (SEDc) (For Parents) (Nemours Foundation)  
    Dwarfism/Children ... Dwarfism ... Connective Tissue Disorders/Children ... Connective Tissue Disorders ... Bone Diseases/Children ... Bone Diseases ... Nemours Foundation
    https://kidshealth.org/en/parents/sedc-dysplasia.html - External Health Links
  9. Hypochondrogenesis 
    ... the newborn period are usually reclassified as having spondyloepiphyseal dysplasia congenita, a related but milder disorder that similarly ...
    https://medlineplus.gov/genetics/condition/hypochondrogenesis - Genetics
  10. TRAPPC2 gene 
    ... gene have been found to cause X-linked spondyloepiphyseal dysplasia tarda. This condition impairs bone growth and occurs ... of the signs and symptoms of X-linked spondyloepiphyseal dysplasia tarda, although it is unclear why the skeletal ...
    https://medlineplus.gov/genetics/gene/trappc2 - Genetics
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