Spondyloepiphyseal dysplasia congenita
Overview
 
Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of bone
Bone
Bones are rigid organs that constitute part of the endoskeleton of vertebrates. They support, and protect the various organs of the body, produce red and white blood cells and store minerals. Bone tissue is a type of dense connective tissue...

 growth that results in dwarfism
Dwarfism
Dwarfism is short stature resulting from a medical condition. It is sometimes defined as an adult height of less than 4 feet 10 inches  , although this definition is problematic because short stature in itself is not a disorder....

, characteristic skeletal abnormalities, and occasionally problems with vision
Visual perception
Visual perception is the ability to interpret information and surroundings from the effects of visible light reaching the eye. The resulting perception is also known as eyesight, sight, or vision...

 and hearing
Hearing (sense)
Hearing is the ability to perceive sound by detecting vibrations through an organ such as the ear. It is one of the traditional five senses...

. The name of the condition indicates that it affects the bones of the spine
Vertebral column
In human anatomy, the vertebral column is a column usually consisting of 24 articulating vertebrae, and 9 fused vertebrae in the sacrum and the coccyx. It is situated in the dorsal aspect of the torso, separated by intervertebral discs...

 (spondylo-) and the ends of bones (epiphyses), and that it is present from birth (congenital). The signs and symptoms of spondyloepiphyseal dysplasia congenita are similar to, but milder than, the related skeletal disorders achondrogenesis type 2
Achondrogenesis type 2
Infants with achondrogenesis, type 2 have short arms and legs, a small chest with short ribs, and underdeveloped lungs. Achondrogenesis, type 2 is a subtype of collagenopathy, types II and XI. This condition is also associated with a lack of bone formation in the spine and pelvis...

 and hypochondrogenesis
Hypochondrogenesis
Hypochondrogenesis is a severe genetic disorder causing malformations of bone growth. The condition is characterized by a short body and limbs and abnormal bone formation in the spine and pelvis....

.
Discussions
 
x
OK