Acromicric dysplasia

Definition:

Acromicric dysplasia is a rare autosomal dominant bone dysplasia characterised by severe short stature, short hands and feet, joint limitations, skin thickening, and distinct facial features. It has been reported that mutations in FBN1 are responsible for this disease.

References:

[1]. 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]

[2]. L Faivre, et al. Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance. J Med Genet. 2001 Nov;38(11):745-9. [Content Brief]

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