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Gordon syndrome

Synonyms
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA; Arthrogryposis distal type 3; Arthrogryposis multiplex congenita distal type 2a; Camptodactyly, cleft palate, and clubfoot; Gordon's syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

DA3, or Gordon syndrome, is distinguished from other distal arthrogryposes by short stature and cleft palate (summary by Bamshad et al., 2009). There are 2 syndromes with features overlapping those of DA3 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 5 (DA5; 108145) and Marden-Walker syndrome (MWKS; 248700), which are distinguished by the presence of ocular abnormalities and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders may represent variable expressivity of the same condition. For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120). [from OMIM]

Available tests

14 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C18orf30, C18orf58, DA3, DA5, DAIPT, FAM38B, FAM38B2, HsT748, HsT771, MWKS, PIEZO2
    Summary: piezo type mechanosensitive ion channel component 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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