Acrocapitofemoral dysplasia

Definition:

Acrocapitofemoral dysplasia (ACFD) is an autosomal recessive skeletal dysplasia characterized by short stature with brachydactyly, a narrow thorax, and a relatively large head. Radiographically, cone-shaped epiphyses are present in the hands and hips.

References:

[1]. G R Mortier, et al. Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips. J Med Genet. 2003 Mar;40(3):201-7. [Content Brief]

[2]. Jan Hellemans, et al. Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips. Am J Hum Genet. 2003 Apr;72(4):1040-6. [Content Brief]

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