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 |
|---|---|---|
| 30%-79% of people have these symptoms | ||
| Broad forehead |
Increased width of the forehead
Wide forehead
[ more ]
|
0000337 |
| Highly arched eyebrow |
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ]
|
0002553 |
| Long philtrum | 0000343 | |
| Sparse and thin eyebrow |
Thin, sparse eyebrows
|
0000535 |
| Percent of people who have these symptoms is not available through HPO | ||
| Aortic regurgitation | 0001659 | |
| Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
| Arthralgia |
Joint pain
|
0002829 |
| Arthropathy |
Disease of the joints
|
0003040 |
| 0000007 | ||
| Barrel-shaped chest |
Barrel chest
|
0001552 |
| Bilateral single transverse palmar creases | 0007598 | |
|
Short fingers or toes
|
0001156 | |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Coronal cleft vertebrae | 0003417 | |
| Cubitus valgus |
Outward turned elbows
|
0002967 |
| Decreased hip abduction | 0003184 | |
| Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
| Delayed gross motor development |
Delayed motor skills
|
0002194 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| Deviation of the 5th finger |
Displaced little finger
Displaced pinkie finger
Displaced pinky finger
[ more ]
|
0009179 |
| Elbow dislocation |
Dislocations of the elbows
Elbow dislocations
[ more ]
|
0003042 |
| Fixed elbow flexion | 0006471 | |
| Flattened epiphysis |
Flat end part of bone
|
0003071 |
| Generalized bone demineralization | 0006462 | |
| Genu valgum |
Knock knees
|
0002857 |
| Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Hypoplasia of the capital femoral epiphysis |
Small innermost thighbone end part
Underdevelopment of the innermost thighbone end part
[ more ]
|
0003090 |
| Hypoplasia of the ulna |
Underdeveloped inner large forearm bone
|
0003022 |
| Intervertebral space narrowing | 0002945 | |
| Irregular vertebral endplates | 0003301 | |
| Knee dislocation | 0004976 | |
| Kyphoscoliosis | 0002751 | |
| Limited hip extension |
Restricted hip extension
|
0003093 |
| Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
| Microdontia |
Decreased width of tooth
|
0000691 |
| Microtia |
Small ears
Underdeveloped ears
[ more ]
|
0008551 |
| Mitral regurgitation | 0001653 | |
| Mitral stenosis | 0001718 | |
| Multiple carpal ossification centers | 0006067 | |
| Narrow vertebral interpedicular distance | 0008450 | |
| Pes planus |
Flat feet
Flat foot
[ more ]
|
0001763 |
| Pulmonary arterial |
Increased blood pressure in blood vessels of lungs
|
0002092 |
| Pulmonic stenosis |
Narrowing of pulmonic valve
|
0001642 |
| Rhizomelia |
Disproportionately short upper portion of limb
|
0008905 |
| Shield chest | 0000914 | |
| Short distal phalanx of finger |
Short outermost finger bone
|
0009882 |
| Short femoral neck |
Short neck of thighbone
|
0100864 |
| Short metacarpal |
Shortened long bone of hand
|
0010049 |
| Short neck |
Decreased length of neck
|
0000470 |
| Shoulder dislocation | 0003834 | |
| Small epiphyses |
Small end part of bone
|
0010585 |
| Spondyloepiphyseal dysplasia | 0002655 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
| Tibial bowing |
Bowed shankbone
Bowed shinbone
[ more ]
|
0002982 |
| Tricuspid regurgitation | 0005180 | |
| Tricuspid stenosis | 0010446 | |
| Ulnar bowing |
Curving of inner forearm bone
|
0003031 |
| Ventricular hypertrophy | 0001714 | |
| Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
| Waddling gait |
'Waddling' gait
Waddling walk
[ more ]
|
0002515 |
| Wide intermamillary distance |
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ]
|
0006610 |
| Widely spaced teeth |
Wide-spaced teeth
Widely-spaced teeth
[ more ]
|
0000687 |
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.
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.
