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acrocapitofemoral dysplasia

Monday 29 September 2003

Acrocapitofemoral dysplasia is a autosomal recessive skeletal dysplasia, characterized clinically by short stature with short limbs and radiographically by cone-shaped epiphyses, mainly in hands and hips.

Etiology

- homozygous mutations in IHH, the gene encoding Indian hedgehog (2q35-q36)