Orpha Number: 2471
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 | Learn More: HPO ID |
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Abnormality of cardiovascular system morphology | 0030680 | |
| Aplasia/Hypoplasia of the abdominal wall musculature |
Absent/small abdominal wall muscles
Absent/underdeveloped abdominal wall muscles
[ more ]
|
0010318 |
|
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
| Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
| Macrotia |
Large ears
|
0000400 |
| Open bite |
Absence of overlap of upper and lower teeth
Open bite between upper and lower teeth
[ more ]
|
0010807 |
| Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ]
|
0000448 |
| Prominent supraorbital ridges |
Prominent brow
|
0000336 |
| Protruding ear |
Prominent ear
Prominent ears
[ more ]
|
0000411 |
|
Abnormal curving of the spine
|
0002650 | |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
|
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
| Synophrys |
Monobrow
Unibrow
[ more ]
|
0000664 |
| 30%-79% of people have these symptoms | ||
| Abnormal palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ]
|
0000174 |
| Bilateral single transverse palmar creases | 0007598 | |
| Cachexia |
Wasting syndrome
|
0004326 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Dental malocclusion |
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ]
|
0000689 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Low-set, posteriorly rotated ears | 0000368 | |
| Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ]
|
0000303 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Pectus excavatum |
Funnel chest
|
0000767 |
|
Drooping upper eyelid
|
0000508 | |
| Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
| Short philtrum | 0000322 | |
| Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormal facial shape |
Unusual facial appearance
|
0001999 |
| Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
| Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
|
0001631 |
| 0000007 | ||
| Clinodactyly |
Permanent curving of the finger
|
0030084 |
| Diastasis recti |
Gap between large left and right abdominal muscles
|
0001540 |
| Furrowed tongue |
Grooved tongue
|
0000221 |
| Hypoplastic toenails |
Underdeveloped toenails
|
0001800 |
| Kyphoscoliosis | 0002751 | |
| Pectus carinatum |
Pigeon chest
|
0000768 |
| Pulmonic stenosis |
Narrowing of pulmonic valve
|
0001642 |
| Radial deviation of finger | 0009466 | |
| Single transverse palmar crease | 0000954 | |
| Sparse hair | 0008070 | |
| Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
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.
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.
