Common signs and sympotms of axial spondylometaphyseal dysplasia, include
People with axial spondylometaphyseal dysplasia may have a normal birth length, but demonstrate growth failure by late infancy to early childhood. A measurement called standard deviation (SD) is used to compare the height of different children. If a child's height is more than 2 SD's below the average height of other children the same age, the child is said to have short stature. This means that almost all of the other children that age (more than 95% or 19 out of 20) are taller. Individual case reports of children and an adult with axial spondlometaphyseal dysplasia demonstrate height as being between 2 to 6 SD’s below average.
Infants with axial spondlometaphyseal dysplasia tend to have a shortened chest with short ribs, a condition called thoracic hypoplasia. Thoracic hypoplasia tends to become more prominent in childhood, and less noticeable in adolescence and adulthood. Thoracic hypoplasia may cause mild to moderate breathing problems in infants and recurring lung infections in childhood.
Young children with axial spondlometaphyseal dysplasia have shortened upper arms and upper leg bones, which may become less prominent as they grow.
Spine changes include vertebrae that have a flattened appearance on
Pelvic bone changes can be seen in infants and children. Some of these changes self-correct by adulthood. A condition called “coxa vara” (where the angle between the top of the femur and the femoral shaft is smaller than normal) is common beginning in late childhood and persists through adulthood. Coxa vara may affect gait (pattern or way of walking). Some people with axial spondlometaphyseal dysplasia have minor bone changes in their knees.
Vision problems, including retinitis pigmentosa and/or optic atrophy, become evident in infancy or early childhood and rapidly worsen. Retinitis pigmentosa causes
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Delayed skeletal maturation||
Delayed bone maturation
Delayed skeletal development[ more ]
Loss of eyesight
Poor vision[ more ]
|30%-79% of people have these symptoms|
|Irregular iliac crest||0003796|
|Proximal femoral metaphyseal irregularity||0003411|
Small thorax[ more ]
|5%-29% of people have these symptoms|
Nasal tip, upturned
Upturned nasal tip
Upturned nostrils[ more ]
|Downslanted palpebral fissures||
Downward slanting of the opening between the eyelids
Widely spaced eyes[ more ]
Extreme sensitivity of the eyes to light
Light hypersensitivity[ more ]
Eyeballs bulging out
Protruding eyes[ more ]
Decreased length of nose
Shortened nose[ more ]
Corners of eye widely separated
|Percent of people who have these symptoms is not available through HPO|
|Anterior rib cupping||0000907|
|Narrow greater sacrosciatic notches||0003375|
|Short femoral neck||
Short neck of thighbone
Decreased body height
Small stature[ more ]
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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In laymans terms, What is it? How does a child get it? What are the genetic factors involved? What can we expect from future generations? Is growth hormone therapy, surgery, or visual corrections available? How does this condition affect a person over the course of their life? What can be done to treat it? See answer