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) |
| Disproportionate short-trunk |
Very frequent (present in 80%-99% of cases) |
| Dumbbell-shaped long bone | Very frequent (present in 80%-99% of cases) |
| Enlarged thorax | Very frequent (present in 80%-99% of cases) |
| Flared metaphysis | Very frequent (present in 80%-99% of cases) |
| Flattened, squared-off epiphyses of tubular bones | Very frequent (present in 80%-99% of cases) |
| Hyperlordosis | Very frequent (present in 80%-99% of cases) |
| Hypoplastic pelvis | 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) |
| Micromelia | Very frequent (present in 80%-99% of cases) |
| Midface retrusion | Very frequent (present in 80%-99% of cases) |
| Myopia | Very frequent (present in 80%-99% of cases) |
| Osteoarthritis | Very frequent (present in 80%-99% of cases) |
| Platyspondyly | Very frequent (present in 80%-99% of cases) |
| Retinopathy | Very frequent (present in 80%-99% of cases) |
| Rhizomelia | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Short thorax | Very frequent (present in 80%-99% of cases) |
| Skeletal dysplasia | Very frequent (present in 80%-99% of cases) |
| Vitreoretinal degeneration | Very frequent (present in 80%-99% of cases) |
| Coxa vara | Frequent (present in 30%-79% of cases) |
| Hearing impairment | Frequent (present in 30%-79% of cases) |
| Hip dislocation | Frequent (present in 30%-79% of cases) |
| Proptosis | Frequent (present in 30%-79% of cases) |
| Retinal detachment | Frequent (present in 30%-79% of cases) |
| Round face | Frequent (present in 30%-79% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Ectopia lentis | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Glossoptosis | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Occasional (present in 5%-29% of cases) |
|
| Respiratory distress | Occasional (present in 5%-29% of cases) |
| Tracheal stenosis | Occasional (present in 5%-29% of cases) |
| Tracheomalacia | Occasional (present in 5%-29% of cases) |
| Abnormal cartilage collagen | - |
| - | |
| Conductive hearing impairment | - |
| Coronal cleft vertebrae | - |
| Delayed epiphyseal ossification | - |
| Enlarged joints | - |
| Gait disturbance | - |
| Hip |
- |
| Inguinal hernia | - |
| Lumbar kyphoscoliosis | - |
| Malar flattening | - |
| Motor delay | - |
| Recurrent otitis media | - |
| Short neck | - |
| Splayed epiphyses | - |
| Umbilical hernia | - |
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.
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.
Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
Young Investigator Initiative Career Development and Grant Mentoring Program
June 21, 2016
2015 Collagen Gordon Research Conference and Gordon Research Seminar
Sunday, July 12, 2015 -
Friday, July 17, 2015
Location:
New London,
NH
Description: The 2015 Collagen GRC program will include invited and platform presentations as well as posters on (a) new data and concepts about the genetics, chemistry, biology and pathology of collagens; (b) advances in closely related areas of research, such as cell-matrix interactions, developmental biology and diseases of connective tissues, and bioengineering, that are relevant to the collagen field; (c) new and emerging technologies and approaches that may be applied to the collagen field.
Contact: Hung Tseng, Ph.D., (301) 496-0810, tsengh@mail.nih.gov
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
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