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 form of the vertebral bodies | 90% |
| Abnormality of epiphysis morphology | 90% |
| Micromelia | 90% |
| Narrow chest | 90% |
| Short neck | 90% |
| Short stature | 90% |
| Short thorax | 90% |
| Skeletal dysplasia | 90% |
| Broad forehead | 50% |
| Hyperlordosis | 50% |
| Hypertelorism | 50% |
| Malar flattening | 50% |
| Osteoarthritis | 50% |
| Talipes | 50% |
| Cataract | 7.5% |
| Glaucoma | 7.5% |
| Hearing impairment | 7.5% |
| Kyphosis | 7.5% |
| Myopia | 7.5% |
| Nystagmus | 7.5% |
| Retinal detachment | 7.5% |
| Scoliosis | 7.5% |
| Autosomal dominant inheritance | - |
| Barrel-shaped chest | - |
| Cervical myelopathy | - |
| Coxa vara | - |
| Delayed calcaneal ossification | - |
| Delayed pubic bone ossification | - |
| Flat face | - |
| Flattened epiphysis | - |
| Hip dislocation | - |
| Hypoplasia of the odontoid process | - |
| Limitation of knee mobility | - |
| Limited elbow movement | - |
| Limited hip movement | - |
| Lumbar hyperlordosis | - |
| Muscular hypotonia | - |
| Neonatal short-trunk short stature | - |
| Ovoid vertebral bodies | - |
| Pectus carinatum | - |
| Platyspondyly | - |
| Respiratory distress | - |
| Restrictive ventilatory defect | - |
| Spondyloepiphyseal dysplasia | - |
| Talipes equinovarus | - |
| Vitreoretinal degeneration | - |
| Waddling gait | - |
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their 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.
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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I have a 7 year old daughter with this condition. What are the chances of having another child with the same condition? See answer
