Spondyloepiphyseal dysplasia congenita

الوصف

Spondyloepiphyseal dysplasia (SED) congenita is a disorder of bone development that causes short stature with a particularly short torso and short arms and legs. The parts of the body are not proportional to one another (disproportionate short stature) in people with this condition. Affected individuals typically have hands and feet that are of average size. SED congenita affects the bones of the spine (spondylo-) and the ends (epiphyses) of the long bones in the arms and legs. People with this condition also have problems with vision and hearing. The word "congenita" indicates that the condition is often noticeable at birth. The signs and symptoms of SED congenita can vary among affected individuals.

People with SED congenita have an adult height that ranges from 3 feet to almost 5 feet. Affected individuals may develop abnormal curvature of the spine (scoliosis or kyphosis), which can worsen during childhood. Instability of the spinal bones (vertebrae) in the neck can cause these bones to shift, which increases the risk of damage to the spinal cord. 

Other skeletal issues in individuals with SED congenita can include flattened vertebrae (platyspondyly), an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara), and inward- and upward-turning feet (clubfoot). Arthritis and decreased joint mobility often develop early in life. An abnormally short, broad, and barrel-shaped chest can cause problems with breathing. People with SED congenita may also have breathing problems due to weakness of the windpipe. 

SED congenita often causes mild differences in facial features such as underdeveloped cheek bones (malar hypoplasia). Some affected individuals have a particular group of physical features called Pierre Robin sequence, which includes an opening in the roof of the mouth (cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia). Severe nearsightedness (high myopia) is common in SED congenita, as are other eye problems that can impair vision such as a tearing of the light-sensitive tissue at the back of the eye (retinal detachment). Some people with SED congenita have hearing loss.

Some disorders, such as spondyloepiphyseal dysplasia with premature-onset arthrosis and Namaqualand type hip dysplasia, are similar to SED congenita but have milder signs and symptoms. These milder conditions were once thought to be separate disorders, but they are now considered to be part of SED congenita. People with these disorders typically have joint pain and stiffness, which can restrict movement. Symptoms can begin in childhood and often worsen over time.

Inheritance patterns

The source lists the following possible inheritance patterns: Autosomal dominant+New variant; Autosomal recessive. More than one pattern can apply in different cases.

Related genes

• COL2A1

Other names

SED congenita

SED, congenital type

SEDC

SEDc

Spondyloepiphyseal dysplasia congenita (SEDC), COL2A1-related

Spondyloepiphyseal dysplasia, congenital type