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|
|Abnormal lacrimal duct morphology||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
Little lower jaw
Small lower jaw[ more ]
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.
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.
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.
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.
National DNA Day Reddit "Ask Me Anything" (AMA) Series
April 11, 2018
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