The autosomal dominant form is caused by a mutation in ANKH on chromosome 5 (5p15.2-p14.1). The autosomal recessive form is caused by a mutation in a mutation in GJA1 on chromosome 6 (6q21-q22). The recessive form tends to be more severe than the dominant form.
Craniometaphyseal dysplasia
Craniodiaphyseal dysplasia
Metaphyseal dysplasia
Otospondylomegaepiphyseal dysplasia
Spondylo-meta-epiphyseal dysplasia
Multiple epiphyseal dysplasia
Spondyloepimetaphyseal dysplasia
Achondroplasia