Spondyloepiphyseal Dysplasia, Congenital Type

Below you will find more information about Spondyloepiphyseal Dysplasia, Congenital Type from Medigest. If you believe that you are suffering from any of the symptoms of Spondyloepiphyseal Dysplasia, Congenital Type it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Spondyloepiphyseal Dysplasia, Congenital Type and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Spondyloepiphyseal Dysplasia, Congenital Type comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.


Spondyloepiphyseal dysplasia, congenital type is a rare genetic bone growth disorder that leads to dwarfism, skeletal abnormalities, and in some cases visual and auditory disturbances. As the name of the disease suggests, this rare medical condition can be defined as a disease that affects the bone of the spine and the ends of bones which is present at birth.

Symptoms and Signs

Characteristic symptoms include: short stature evident from birth, short trunk, short neck, shortened limbs. Skeletal signs and symptoms are noticeable as the disorder progresses including spine curvature which can either be Kyphoscoliosis or lordosis, flattened vertebrae, upper legs turning inward, clubfoot, and arthritis and decreased joint mobility and in some cases changes in the facial features may occur including the tendency for the cheekbone close to the nose to be flattened. In some cases, infants born with this condition often have cleft palate. Other remarkable manifestations include severe nearsightedness and other vision problems in addition to hearing problems.


Spondyloepiphyseal dysplasia, congenital type is caused by mutations in the COL2A1 gene, obstructing the gathering of type II collagen molecules.When this occurs normal bone development would be impossible; thus cause the signs and symptoms of Spondyloepiphyseal dysplasia, congenital type. The condition is inherited in an autosomal dominant pattern of inheritance.

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