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Spondyloepiphyseal dysplasia congenita
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Reviewed July 2008
What is spondyloepiphyseal dysplasia congenita?
Spondyloepiphyseal dysplasia congenita is an inherited disorder of bone growth that results in short stature (dwarfism), skeletal abnormalities, and problems with vision and hearing. This condition affects the bones of the spine (spondylo-) and the ends (epiphyses) of long bones in the arms and legs. Congenita indicates that the condition is present from birth.
People with spondyloepiphyseal dysplasia congenita have short stature from birth, with a very short trunk and neck and shortened limbs. Their hands and feet, however, are usually average-sized. Adult height ranges from 3 feet to just over 4 feet. Abnormal curvature of the spine (kyphoscoliosis and lordosis) becomes more severe during childhood and can cause problems with breathing. Instability of the spinal bones (vertebrae) in the neck may increase the risk of spinal cord damage. Other skeletal features include flattened vertebrae (platyspondyly); an abnormality of the hip joint that causes the upper leg bones to turn inward (coxa vara); a broad, barrel-shaped chest; and a foot deformity called a clubfoot. Arthritis and decreased joint mobility often develop early in life.
People with spondyloepiphyseal dysplasia congenita have mild changes in their facial features. The cheekbones close to the nose may appear flattened. Some infants are born with an opening in the roof of the mouth (a cleft palate). Severe nearsightedness (high myopia) is common, as are other eye problems that can impair vision. About one quarter of people with this condition have hearing loss.
How common is spondyloepiphyseal dysplasia congenita?
This condition is rare; the exact incidence is unknown. More than 175 cases have been reported in the scientific literature.
What genes are related to spondyloepiphyseal dysplasia congenita?
Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). The COL2A1 gene is essential for the normal development of bones and other tissues that form the body's supportive framework (connective tissues). Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly.
Read more about the COL2A1 gene.
How do people inherit spondyloepiphyseal dysplasia congenita?
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Most cases of this condition result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.
Where can I find information about diagnosis or management of spondyloepiphyseal dysplasia congenita?
These resources address the diagnosis or management of spondyloepiphyseal dysplasia congenita and may include treatment providers.
General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.
Where can I find additional information about spondyloepiphyseal dysplasia congenita?
You may find the following resources about spondyloepiphyseal dysplasia congenita helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
What other names do people use for spondyloepiphyseal dysplasia congenita?
What if I still have specific questions about spondyloepiphyseal dysplasia congenita?
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding spondyloepiphyseal dysplasia congenita?
arthritis ; autosomal ; autosomal dominant ; cartilage ; cell ; cleft palate ; clubfoot ; collagen ; congenital ; coxa vara ; dwarfism ; dysplasia ; embryonic ; gene ; incidence ; inherited ; joint ; kyphoscoliosis ; lordosis ; myopia ; nearsightedness ; palate ; protein ; reproductive cells ; short stature ; spectrum ; sperm ; stature
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (2 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.