The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormal cortical bone morphology | Very frequent (present in 80%-99% of cases) |
| Abnormal enchondral ossification | Very frequent (present in 80%-99% of cases) |
| Abnormal form of the vertebral bodies | Very frequent (present in 80%-99% of cases) |
| Abnormality of the intervertebral disk | Very frequent (present in 80%-99% of cases) |
| Abnormality of the metaphysis | Very frequent (present in 80%-99% of cases) |
| Abnormality of the ribs | Very frequent (present in 80%-99% of cases) |
| Halberd-shaped pelvis | Very frequent (present in 80%-99% of cases) |
| High forehead | Very frequent (present in 80%-99% of cases) |
| Hypoplastic cervical vertebrae | Very frequent (present in 80%-99% of cases) |
| Joint stiffness | Very frequent (present in 80%-99% of cases) |
| Kyphosis | Very frequent (present in 80%-99% of cases) |
| Long thorax | Very frequent (present in 80%-99% of cases) |
| Micromelia | Very frequent (present in 80%-99% of cases) |
| Narrow chest | Very frequent (present in 80%-99% of cases) |
| Rough bone trabeculation | Very frequent (present in 80%-99% of cases) |
| Scoliosis | Very frequent (present in 80%-99% of cases) |
| Severe short stature | Very frequent (present in 80%-99% of cases) |
| Skeletal dysplasia | Very frequent (present in 80%-99% of cases) |
| Aplasia/Hypoplasia of the lungs | Occasional (present in 5%-29% of cases) |
| Camptodactyly of finger | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Clinodactyly of the 5th finger | Occasional (present in 5%-29% of cases) |
| Fetal akinesia sequence | Occasional (present in 5%-29% of cases) |
| Flexion contracture | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Low-set, posteriorly rotated ears | Occasional (present in 5%-29% of cases) |
| Peripheral axonal neuropathy | Occasional (present in 5%-29% of cases) |
| Abnormal metaphyseal vascular invasion | - |
| Absent primary metaphyseal spongiosa | - |
| Anisospondyly | - |
| - | |
| Brachydactyly | - |
| Caudal appendage | - |
| Dumbbell-shaped metaphyses | - |
| Epiphyseal dysplasia | - |
| Flared femoral metaphysis | - |
| Flared humeral metaphysis | - |
| Hyperplasia of the femoral trochanters | - |
| Long coccyx | - |
| Platyspondyly | - |
| Relatively short spine | - |
| Respiratory failure | - |
| Short finger | - |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
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Young Investigator Initiative Career Development and Grant Mentoring Program
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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
I was diagnosed with a rare disease as a child. Recently, at age 21, I learned that I have metatropic dwarfism (also known as metatropic dysplasia). My doctors haven't been able to give me much information. Can you tell me more about this condition, including treatment options? See answer
