achondrogenesis

Other types of achondrogenesis may exist, but they have not been characterized or their cause is unknown.

Many infants with achondrogenesis are stillborn or die shortly after birth because of breathing problems related to the abnormally small chest.

As a result of their serious health problems, infants with achondrogenesis are usually born prematurely, are stillborn, or die shortly after birth from respiratory failure.

Infants with achondrogenesis, type 2 have short arms and legs, a small chest with short ribs, and underdeveloped lungs.

The signs and symptoms of spondyloepiphyseal dysplasia congenita are similar to, but milder than, the related skeletal disorders achondrogenesis type 2 and hypochondrogenesis.

When their DNA was sequenced, human patients with achondrogenesis type 1A also had loss-of-function mutations in GMAP-210.

Achondroplasia is one of 19 congenital conditions with similar presentations, such as osteogenesis imperfecta, multiple epiphyseal dysplasia tarda, achondrogenesis, osteopetrosis, and thanatophoric dysplasia.

Achondrogenesis type 2: Several kinds of mutations in the COL2A1 gene are responsible for achondrogenesis, type 2.

Mutations in the SLC26A2 gene disrupt the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of achondrogenesis, type 1B.

All of these mutations prevent the normal production of mature type II collagen, which results in achondrogenesis, type 2 by affecting tissues that are rich in type II collagen.

Hypochondrogenesis is a subtype of collagenopathy, types II and XI, and is similar to another skeletal disorder, achondrogenesis type 2, although the spinal changes seen in hypochondrogenesis tend to be somewhat milder.

Researchers have described at least three forms of achondrogenesis, designated as Achondrogenesis type 1A, achondrogenesis type 1B and achondrogenesis type 2.