Mutations in the COL11A2 gene cause<unk> . The protein made by the COL11A2 gene is involved in the production of type XI collagen. This type of collagen is important for the normal development of bone and other connective tissues. Mutations in the COL11A2 gene lead to a loss of function of this type of collagen, resulting in the signs and symptoms of<unk> .<unk>  is inherited in an autosomal recessive pattern, which means the defective gene is located on an autosome, and two copies of the defective gene - one from each parent - must be inherited for a person to be affected by the disorder. The parents of a child with an autosomal recessive disorder are usually not affected but are carriers of one copy of the altered gene. A recessive pattern of inheritance makes<unk>  unique among the type II and type XI collagenopathies.
Otospondylomegaepiphyseal dysplasia
Spondylo-meta-epiphyseal dysplasia
Metaphyseal dysplasia
Craniometaphyseal dysplasia
Multiple epiphyseal dysplasia
Achondroplasia
Craniodiaphyseal dysplasia
Spondyloepimetaphyseal dysplasia