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Contents

   



(Top)
 


1 Signs and symptoms  





2 Cause  





3 Epidemiology  





4 References  





5 External links  














Gordon syndrome







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From Wikipedia, the free encyclopedia
 


Gordon syndrome
Other namesCamptodactyly-cleft palate-clubfoot syndrome
Gordon syndrome is inherited in an autosomal dominant manner

Gordon syndrome, or distal arthrogryposis type 3, is a rare genetic disorder characterized by cleft palate and congenital contractures of the hands and feet.

Signs and symptoms[edit]

Other signs and symptoms include short stature, bifid uvula, hip dislocation, scoliosis or kyphosis, or syndactyly. Intelligence is not affected.[1][2]

Cause[edit]

Gordon syndrome is a rare autosomal dominant disorder caused by mutation in PIEZO2.[2]

Epidemiology[edit]

It affects males and females equally. Fewer than 50 cases have been reported worldwide.[1]

References[edit]

  1. ^ a b "Gordon Syndrome". NORD (National Organization for Rare Disorders). Retrieved 15 April 2019.
  • ^ a b "Gordon syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 15 April 2019.
  • External links[edit]


  • t
  • e

  • Retrieved from "https://en.wikipedia.org/w/index.php?title=Gordon_syndrome&oldid=1183105828"

    Categories: 
    Genetic syndromes
    Rare genetic syndromes
    Syndromes with musculoskeletal abnormalities
    Syndromes with cleft lip and/or palate
    Genetic disorder stubs
    Hidden categories: 
    Articles with short description
    Short description matches Wikidata
    All stub articles
     



    This page was last edited on 2 November 2023, at 05:47 (UTC).

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