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Spondyloepiphyseal Dysplasia Congenita
Sunday, 14 August 2005
Sunday, 14 August 2005


Spondyloepiphyseal dysplasia congenita (SEDC) is a genetic disorder that primarily affects the bones and results in dwarfism, skeletal abnormalities, and vision and hearing problems. Spondylo means spine, epiphyseal refers to the growing ends of bones, dysplasia means abnormal growth, and congenita means present at birth; therefore this is a disorder of the spine and bones that is present at birth.


The incidence of SEDC is approximately 1 per 100,000 live births. It affects males and females equally; and no racial differences are seen.

Signs and Symptoms

Children with SEDC have poor growth even before birth. From the time of birth or at an early age, children with this disorder have; • skeletal abnormalities such as scoliosis or lordosis (abnormal curvature of the spine), barrel-shaped chest, platyspondyly (flattened vertebrae), coxa vara (inward-turning leg bones) that causes a waddling gait and pain, clubfoot (inward- and downward-turning foot), instability of the spine in the neck region, and decreased joint mobility with arthritis • The spine and neck deformities in particular place patients with SEDC at higher risk for spinal cord damage, respiratory difficulty, delayed motor development, muscle spasms, and other problems related to spinal cord compression • Most patients with SEDC also have vision and hearing difficulties such as severe nearsightedness, retinal detachment, and hearing loss • Some patients will show characteristic facial features, namely flattened cheekbones and cleft palate • Expected adult height is about 36-67” • Intelligence is usually unaffected

Possible Causes

SEDC is usually transmitted in an autosomal dominant manner, but occasional cases of autosomal recessive inheritance have been reported. However, the majority of cases are not due to inherited mutations, but are caused by new spontaneous mutations in the gene named COL2A1, which is located on chromosome 12. COL2A1 makes a protein involved in the production of a type of collagen that is found in the fluid of the eyeball, inside the vertebrae, and at the ends of many long bones; thus, a defect in this gene leads to the skeletal and vision findings most characteristic of SEDC.


SEDC may be diagnosed at birth based on the signs and symptoms described above along with various forms of radiographic imaging, such as x-ray, MRI, or CT scan. Imaging of the head, neck, spine, and pelvic area will show delayed or abnormal development of bones in the face, neck, spine, hips, and/or feet.


The treatment for patients with SEDC consists of regular consultations with a team of physicians including; an ophthalmologist, otolaryngologist, neurologist, and pulmonologist for evaluation of retinal degeneration and myopia, hearing loss, deficits in motor function, and respiratory complications, respectively. Orthopedic intervention is usually necessary to correct skeletal problems, whether through surgery, physical therapy, or other treatment options, such as the wearing of a brace. In most cases surgery will be necessary.


Barring severe complications, the prognosis of patients with SEDC is quite good. They are often able to live a full live and with treatment are usually able to manage the many complications associated with this disorder. Due to neck instability children with this disorder are advised to avoid high impact activities that could result in trauma to the neck or head, but are otherwise not limited in activity.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


Kniest SED Group
Patient- and parent-friendly website offering information, research tips, stories, advocacy, newsletters, events, conferences, scholarships, and more for those with SEDC and other similar skeletal conditions.

Little People of America
National organization providing support and information to people of short stature and their families.

Human Growth Foundation
Comprehensive website offering treatment information, links to studies and clinical trials, support lists, and publications relating to disorders of growth.

Google Search for Spondyloepiphyseal Dysplasia Congenita

References and Sources

Parikh SN (2003). Spondyloepiphyseal Dysplasia. Online Mendelian Inheritance in Man. (2001). #183900 Spondyloepiphyseal Dysplasia Congenita; SEDC. Mortier GR, et al. (2000). Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder, J Med Genet, 37:4, p 263-71.