Arthrogryposis, Distal, Type 3

Alternative Names

  • Gordon Syndrome
  • DA3
  • Arthrogryposis Multiplex Congenita, Distal, Type IIA
  • Camptodactyly, Cleft Palate, and Clubfoot
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

114300

Mode of Inheritance

Autosomal Dominant

Gene Map Locus

18p11.22-p11.21

Description

Gordon syndrome is a type of distal arthrogryposis that is characterised by camptodactyly, clubfoot, and cleft palate (rarely in about 25% of subjects). It has an early age of onset and follows an autosomal dominant inheritance pattern.

Heterozygous mutation in the PIEZO2 (Piezo Type Mechanosensitive Ion Channel Component 2) gene is known to cause Gordon syndrome. Mutations in the same gene is also associated with distal arthrogryposis type 5 and Marden-Walker syndrome that has features overlapping those of Gordon syndrome.

Epidemiology in the Arab World

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Other Reports

Kuwait

Al-Harby et al. (1996) reported three Arab siblings with distal arthrogryposis born to phenotypically normal first cousin parents. Two of the subjects demonstrated the main characteristics of Gordon syndrome and odd findings such as mental subnormality and absent right kidney. These findings indicated the possibility of a new variant of Gordon syndrome with broader spectrum of correlated abnormalities. Al-Harby et al. (1996) suggested an autosomal recessive inheritance for this distinct type of Gordon syndrome.

[Al-Harby MK, Naguib KK, Al-Awadi SA, Hamdy NF. Gordon syndrome in sibs: new variant? The Journal of The Kuwait Medical Association 1996; 28(1): 53-6.]

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