Geleophysic dysplasia

Definition:

Geleophysic dysplasia ((GPHYSD) is an autosomal recessive disorder resembling a lysosomal storage disorder. It is characterized by short stature, short hands and feet due to short, plump tubular bones, stiff joints, distinctive facial features, and progressive valvular cardiac disease.

References:

[1]. Aideen M McInerney-Leo, et al. Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. J Med Genet. 2016 Jul;53(7):457-64. [Content Brief]

[2]. Carine Le Goff, et al. Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet. 2011 Jul 15;89(1):7-14. [Content Brief]

[3]. J Spranger, et al. Geleophysic dysplasia. Am J Med Genet. 1984 Nov;19(3):487-99. [Content Brief]

[4]. Slimane Allali, et al. Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. J Med Genet. 2011 Jun;48(6):417-21. [Content Brief]

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