Oculomelic amyoplasia

Common Name(s)

Oculomelic amyoplasia

Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by {4:Bamshad et al., 2009}). There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; {114300}) and Marden-Walker syndrome (MWKS; {248700}), which are distinguished by the presence of cleft palate and mental retardation, respectively. {14:McMillin et al. (2014)} suggested that the 3 disorders might represent variable expressivity of the same condition. For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A ({108120}). Genetic Heterogeneity of Distal Arthrogryposis 5 A subtype of DA5 due to mutation in the ECEL1 gene ({605896}) on chromosome 2q36 has been designated DA5D ({615065}). See NOMENCLATURE.
 

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Scientific Literature

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