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) |
| Abnormality of the femur | 90% |
| Abnormality of the vitreous humor | 90% |
| Depressed nasal bridge | 90% |
| Enlarged thorax | 90% |
| Hyperlordosis | 90% |
| Kyphosis | 90% |
| Limitation of joint mobility | 90% |
| Malar flattening | 90% |
| Micromelia | 90% |
| Myopia | 90% |
| Osteoarthritis | 90% |
| Platyspondyly | 90% |
| Retinopathy | 90% |
| Scoliosis | 90% |
| Short stature | 90% |
| Short thorax | 90% |
| Skeletal dysplasia | 90% |
| Abnormality of the hip bone | 50% |
| Hearing impairment | 50% |
| Proptosis | 50% |
| Retinal detachment | 50% |
| Round face | 50% |
| Cataract | 7.5% |
| Ectopia lentis | 7.5% |
| Glaucoma | 7.5% |
| Glossoptosis | 7.5% |
| Ptosis | 7.5% |
| Respiratory insufficiency | 7.5% |
| Tracheal stenosis | 7.5% |
| Tracheomalacia | 7.5% |
| Abnormal cartilage collagen | - |
| Autosomal dominant inheritance | - |
| Conductive hearing impairment | - |
| Coronal cleft vertebrae | - |
| Coxa vara | - |
| Delayed epiphyseal ossification | - |
| Disproportionate short-trunk short stature | - |
| Dumbbell-shaped long bone | - |
| Enlarged joints | - |
| Flared metaphysis | - |
| Flattened, squared-off epiphyses of tubular bones | - |
| Gait disturbance | - |
| Hip contracture | - |
| Hip dislocation | - |
| Hypoplastic pelvis | - |
| Inguinal hernia | - |
| Lumbar kyphoscoliosis | - |
| Motor delay | - |
| obsolete Flat midface | - |
| Recurrent otitis media | - |
| Respiratory distress | - |
| 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.
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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