PIEZO2

Arthrogryposis, distal, type 5 (DA5)

 Summary Distal arthrogryposis type 5 (DA5, also known as oculomelic amyoplasia) is caused by heterozygous mutation in the PIEZO2 gene, of which mutations also cause the overlapping syndromes DA3 and Marden-Walker syndrome. Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia*, and/or strabismus, in

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Arthrogryposis, distal, type 3 (DA3)

Summary DA3, or Gordon syndrome, is distinguished from other distal arthrogryposes by short stature and cleft palate. The syndrome is caused by mutationsin the PIEZO2 gene, which also causes DA5 (oculomelic amyoplasia) and Marden-Walker syndrome (MWKS). DA5 and MWKS are very similar to DA3 and are distinguished by ocular abnormalities and mental retardation, respectively (it

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