Orpha Number: 1427
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|
|Abnormality of the metaphysis||
Abnormality of the wide portion of a long bone
Nasal tip, upturned
Upturned nasal tip
Upturned nostrils[ more ]
|Depressed nasal ridge||
Recessed nasal ridge[ more ]
Stiff joints[ more ]
|Sensorineural hearing impairment||0000407|
|30%-79% of people have these symptoms|
|Abnormality of the skin||0000951|
|Feeding difficulties in infancy||0008872|
Round back[ more ]
|5%-29% of people have these symptoms|
|Abnormality of the lacrimal duct||0011481|
Squint eyes[ more ]
|Synostosis of carpal bones||
Fusion of wrist bones
|Ventricular septal defect||0001629|
|Percent of people who have these symptoms is not available through HPO|
|Aplasia/Hypoplasia of the capital femoral epiphysis||
Absent/small end part of innermost thighbone
Absent/underdeveloped end part of innermost thighbone[ more ]
|Beaking of vertebral bodies||0004568|
|Coronal cleft vertebrae||0003417|
Flared wide portion of long bone
|Large tarsal bones||
Large ankle bones
Decreased size of midface
Underdevelopment of midface[ more ]
|Mixed hearing impairment||
Hearing loss, mixed
Mixed hearing loss[ more ]
|Prominent interphalangeal joints||
Prominent hinge joints
|Short long bone||
Long bone shortening
Shortened long bone of hand
|Short phalanx of finger||
Short finger bones
Decreased body height
Small stature[ more ]
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.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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, email@example.com
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases, Office of Rare Diseases Research
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.