Mesomelic dysplasia Kantaputra type

Common Name(s)

Mesomelic dysplasia Kantaputra type

Kantaputra mesomelic dysplasia (MMDK) is a rare, autosomal dominant skeletal disease characterized by symmetric marked shortening of the upper and lower limbs. The ulnae are very short and the radii are bowed. The distal humerus has a dumbbell shape, whereas the hands are relatively normal but show progressive flexion contractures of the proximal interphalangeal joints. Carpal and tarsal synostoses are observed in some individuals. In the lower limbs, the feet are fixed in plantar flexion with the sole facing backward, causing 'ballerina-like standing.' The prominent distal fibula on the ventral aspect is considered to be the signature finding of the syndrome. The calcaneus is small or missing, and a small fibula and talus as well as fibulocalcaneal synostosis are characteristic features. The tibial bony knot articulates with the proximal end of the fibula (summary by {7:Kantaputra et al., 2010}). See {613681} for discussion of the chromosome 2q31.1 duplication syndrome, which shows cytogenetic and phenotypic overlap with MMDK.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mesomelic dysplasia Kantaputra type" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

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The terms "Mesomelic dysplasia Kantaputra type" returned 1 free, full-text research articles on human participants. First 3 results:

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.
 

Author(s): Piranit N Kantaputra, Eva Klopocki, Bianca P Hennig, Verayuth Praphanphoj, C├ędric Le Caignec, Bertrand Isidor, Mei L Kwee, Deborah J Shears, Stefan Mundlos

Journal: Eur. J. Hum. Genet.. 2010 Dec;18(12):1310-4.

 

Mesomelic dysplasia Kantaputra type (MDK) is characterized by marked mesomelic shortening of the upper and lower limbs originally described in a Thai family. To identify the cause of MDK, we performed array CGH and identified two microduplications on chromosome 2 (2q31.1-q31.2) encompassing ...

Last Updated: 18 Nov 2010

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