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 | ||
| Acne | 0001061 | |
| Avascular necrosis |
Death of bone due to decreased blood supply
|
0010885 |
|
Short fingers or toes
|
0001156 | |
| Coarse facial features |
Coarse facial appearance
|
0000280 |
| Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
|
0000490 |
| 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 ]
|
0005280 |
| Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
| Mitral valve prolapse | 0001634 | |
| Osteolysis |
Breakdown of bone
|
0002797 |
| Short philtrum | 0000322 | |
| Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ]
|
0012471 |
| Thickened skin |
Thick skin
|
0001072 |
| Wide mouth |
Broad mouth
Large mouth
[ more ]
|
0000154 |
| Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
|
0000431 |
| 30%-79% of people have these symptoms | ||
| Abnormality of the metacarpal bones |
Abnormality of the long bone of hand
|
0001163 |
| Beaking of vertebral bodies | 0004568 | |
| Broad forehead |
Increased width of the forehead
Wide forehead
[ more ]
|
0000337 |
| Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
| Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
| Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ]
|
0000684 |
| Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
| Genu recurvatum |
Back knee
Knee hyperextension
[ more ]
|
0002816 |
| Gingival overgrowth |
Gum enlargement
|
0000212 |
| High forehead | 0000348 | |
| Joint stiffness |
Stiff joint
Stiff joints
[ more ]
|
0001387 |
| Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
| 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 |
| Premature loss of teeth |
Early tooth loss
Loss of teeth
Premature teeth loss
Premature tooth loss
[ more ]
|
0006480 |
| Protruding ear |
Prominent ear
Prominent ears
[ more ]
|
0000411 |
| 0002650 | ||
| 5%-29% of people have these symptoms | ||
| Abnormal heart morphology |
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ]
|
0001627 |
|
Enlarged male breast
|
0000771 | |
| Inguinal hernia | 0000023 | |
| Motor delay | 0001270 | |
| Umbilical hernia | 0001537 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Abnormality of cardiovascular system morphology | 0030680 | |
| Abnormally large globe |
Increased size of eyes
Large eyes
[ more ]
|
0001090 |
| Anterior concavity of thoracic vertebrae | 0004611 | |
| 0000007 | ||
| Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ]
|
0006487 |
| Broad clavicles |
Broad collarbone
|
0000916 |
| Broad nasal tip |
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ]
|
0000455 |
| Buphthalmos |
Enlarged eyeball
|
0000557 |
| Cortical irregularity | 0005731 | |
| Delayed cranial suture closure | 0000270 | |
| Dental malocclusion |
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ]
|
0000689 |
| Flared metaphysis |
Flared wide portion of long bone
|
0003015 |
| Flat occiput | 0005469 | |
| Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ]
|
0000293 |
| 0000501 | ||
| Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
|
0001510 |
| High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
| Hip dysplasia | 0001385 | |
| Low-set ears |
Low set ears
Lowset ears
[ more ]
|
0000369 |
| Metatarsus adductus |
Front half of foot turns inward
|
0001840 |
|
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
| Osteopenia | 0000938 | |
| 0000939 | ||
| Pectus excavatum |
Funnel chest
|
0000767 |
| Prominent coccyx |
Prominent tailbone
|
0040016 |
| Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ]
|
0011220 |
| Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
| Short long bone |
Long bone shortening
|
0003026 |
| Short phalanx of finger |
Short finger bones
|
0009803 |
| Simple ear | 0020206 | |
| Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
|
0001762 |
| Wide anterior fontanel |
Wider-than-typical soft spot of skull
|
0000260 |
| Wormian bones |
Extra bones within cranial sutures
|
0002645 |
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.
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.
