Atelosteogenesis, type II is a severe disorder of cartilage and bone development. It is inherited in a autosomal recessive pattern and is extremely rare, infants with the disorder are usually stillborn, those that that survive birth die shortly after birth from respiratory failure. Cartilage is type of dense connective tissue. ... Grays illustration of a human femur, a typically recognized bone. ... The expected result of pregnancy is the birth of a living child. ... Birth is the process in mammals by which a fetus is expelled from the body of its mother. ... Respiration can refer to: Cellular respiration, which is the use of oxygen in the metabolism of organic molecules. ...

Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. This disorder is also characterized by an opening in the roof of the mouth (cleft palate), distinctive facial features, an inward- and downward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs). In anatomy, the arm is the upper limb of a bipedal mammal, specifically the segment between the shoulder and the elbow. ... In an extended sense, a leg is any part of an object that supports it off the ground. ... The human abdomen (from the Latin word meaning belly) is the part of the body between the pelvis and the thorax. ... Talipes equinovarus, otherwise known as clubfoot, is a congenital disorder where the foot is turned inward (inversion) and in plantar flexion. ...

The signs and symptoms of atelosteogenesis, type 2 are similar to those of another skeletal disorder called diastrophic dysplasia. Atelosteogenesis, type 2 tends to be more severe, however.

Atelosteogenesis, type 2 is one of a spectrum of skeletal disorders caused by mutations in the SLC26A2 gene. The protein made by this gene is essential for the normal development of cartilage and for its conversion to bone. Mutations in the SLC26A2 gene disrupt the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of atelosteogenesis, type 2. A representation of the 3D structure of myoglobin, showing coloured alpha helices. ...

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene. In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ...

This article incorporates public domain text from The U.S. National Library of Medicine (http://ghr.nlm.nih.gov)