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Results 1 - 7 of 7 for Trichorhinophalangeal dysplasia type I
  1. Schinzel-Giedion syndrome 
    Schinzel-Giedion syndrome is a severe condition that is apparent at birth and affects many body systems. Signs and symptoms ...
    https://medlineplus.gov/genetics/condition/schinzel-giedion-syndrome - Genetics
  2. Trichorhinophalangeal syndrome type I 
    ... no history of the disorder in their family. Trichorhinophalangeal dysplasia type I TRP syndrome TRPS I TRPS1 Genetic Testing Registry: Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type i National Organization for ...
    https://medlineplus.gov/.../trichorhinophalangeal-syndrome-type-i - Genetics
  3. Trichorhinophalangeal syndrome type II 
    ... 8q24.1 deletion syndrome Giedion-Langer syndrome Langer-Giedion syndrome LGS Tricho-rhino-phalangeal syndrome type II Trichorhinophalangeal ... exostosis TRPS II TRPS2 Genetic Testing Registry: Langer-Giedion syndrome Trichorhinophalangeal syndrome type 2 National Organization for Rare ...
    https://medlineplus.gov/.../trichorhinophalangeal-syndrome-type-ii - Genetics
  4. SETBP1 gene 
    ... gene have been identified in children with Schinzel-Giedion syndrome, a severe condition apparent at birth that is ... likely contributes to the many features of Schinzel-Giedion syndrome. However, the exact mechanism that causes this condition ...
    https://medlineplus.gov/genetics/gene/setbp1 - Genetics
  5. SETBP1 haploinsufficiency disorder 
    ... language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. J Med Genet. 2011 Feb;48(2):117- ...
    https://medlineplus.gov/.../setbp1-haploinsufficiency-disorder - Genetics
  6. 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
  7. Joint Disorders (National Library of Medicine)  
    What are joints? Your joints are places where two or more bones come together. Your shoulders, elbows, hips, knees, and knuckles are all joints. Your ...
    https://medlineplus.gov/jointdisorders.html - Health Topics