Acrocapitofemoral dysplasia is an autosomal recessive disorder caused by IHH mutations. It is characterized by bone dysplasia and short stature.
Hellemans J et al. (2003) Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips.[^]
Mortier GR et al. (2003) Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips.[^]
OMIM.ORG articleOmim 607778 [^]
Orphanet articleOrphanet ID 63446 [^]