Orpha Number: 93358
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||
|Percent of people who have these symptoms is not available through HPO|
|Abnormal calcification of the carpal bones||
Abnormal calcification of the wrist bones
|Abnormality of the neck||0000464|
|Anterior rib cupping||0000907|
|Bowing of the legs||
Bowed lower limbs[ more ]
Wide long bones of hand
Wide digital bones
|Calcification of falx cerebri||0005462|
|Depressed nasal bridge||
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root[ more ]
Short limb dwarfism, disproportionate
Short-limbed dwarfism[ more ]
Contractures of elbows
Elbow contractures[ more ]
Speckled calcifications in end part of bone
|Flared iliac wings||0002869|
Flared wide portion of long bone
Decreased muscle tone
Low muscle tone[ more ]
Increased palatal height[ more ]
Partial hip dislocation
Widely spaced eyes[ more ]
|Hypoplasia of the odontoid process||0003311|
|Knee flexion contracture||0006380|
Long calf bone
Front half of foot turns inward
Little lower jaw
Small lower jaw[ more ]
Smaller or shorter than typical limbs
Decreased size of midface
Underdevelopment of midface[ more ]
|Posterior rib cupping||0000922|
|Progressive calcification of costochondral cartilage||0006600|
Eyeballs bulging out
Protruding eyes[ more ]
|Restrictive ventilatory defect||0002091|
Abnormal curving of the spine
|Short long bone||
Long bone shortening
Shortened long bone of hand
Decreased length of nose
Shortened nose[ more ]
|Short phalanx of finger||
Short finger bones
|Spinal cord compression||0002176|
Small thorax[ more ]
|Triangular shaped distal phalanges of the hand||
Triangular shaped outermost bone of the hand
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.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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.
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.
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.