Spondylometaphyseal Dysplasia

Below you will find more information about Spondylometaphyseal Dysplasia from Medigest. If you believe that you are suffering from any of the symptoms of Spondylometaphyseal Dysplasia 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 Spondylometaphyseal Dysplasia 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 Spondylometaphyseal Dysplasia comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.


Spondylometaphyseal dysplasia is a rare inherited bone growth disorder that leads to dwarfism, skeletal abnormalities, and visual problems. 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 two regions near the ends of bones.

Symptoms and Signs

Characteristic symptoms resemble those of spondyloepiphyseal dysplasia, congenital type which include: short stature evident from birth, short trunk and shortened limbs. Skeletal signs and symptoms are noticeable as the disorder progresses including spine curvature which can either be scoliosis or lumbar lordosis, flattened vertebrae, severely protruding breast bone, 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 retina detachment.


The cause of spondylometaphyseal dysplasia is mutations in the COL2A1 gene, responsible for forming type II collagen; which is necessary for normal bone and connective tissue development. Spondyloepiphyseal dysplasia is inherited in an autosomal dominant pattern of inheritance, meaning one copy of altered gene is enough to cause the disorder.

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