Spondyloepiphyseal Dysplasia Congenita

Background and History: 

This is only one of a number of disorders in which mutations cause abnormalities in cartilage and the eye.  As a result, skeletal growth, joints, and the gel-like material known as the vitreous of the eye are adversely affected.

Clinical Correlations: 

This disorder is often diagnosed at birth but the full range of clinical disease may not be evident until 3 or 4 years of age.  Short stature with a barrel chest and deformities of the spine are evident by then.  Cleft palate and hearing loss are common.  The bony growth centers are slow to calcify which can lead to deformities of the limbs and difficulty walking.  The vertebrae are often flattened with deformities which may lead to a short neck.  The abdomen may be protuberant.  Many patients are near-sighted and perhaps half eventually suffer a retinal detachment.  Others may have some degeneration of the retina but by itself this does not affect vision.


This disorder is transmitted in an autosomal dominant or vertical pattern in which affected parents pass the mutation directly to their offspring.  Some patients are only mildly affected however.

Diagnosis and Prognosis: 

Geneticists and orthopedists together with radiologists may need to collaborate to make the diagnosis as there are several variations of this bone and eye disease.  Severe deformities may require surgical correction.  Retinal detachments can be repaired successfully if treated promptly.  It is probably wise to minimize extreme physical activity for blunt trauma to the eye raises the risk of a detached retina.

Additional Information
Autosomal dominant