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Home > F. Pathology by regions > Limbs > acrocapitofemoral dysplasia

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acrocapitofemoral dysplasia

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)

Keywords