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 | ||
Bone pain | 0002653 | |
Bulbous nose | 0000414 | |
Cone-shaped epiphyses of the phalanges of the hand |
Cone-shaped end part of finger bones
|
0010230 |
Deep philtrum | 0002002 | |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
Long philtrum | 0000343 | |
Low-set, posteriorly rotated ears | 0000368 | |
Multiple long-bone exostoses | 0005039 | |
Protruding ear |
Prominent ear
Prominent ears
[ more ]
|
0000411 |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Sparse scalp hair |
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair
[ more ]
|
0002209 |
Thin upper lip vermilion |
Thin upper lip
|
0000219 |
30%-79% of people have these symptoms | ||
Aplasia/Hypoplasia of the mandible | 0009118 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Joint dislocation |
Joint dislocations
Recurrent joint dislocations
[ more ]
|
0001373 |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Redundant skin |
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
[ more ]
|
0001582 |
Thick eyebrow |
Bushy eyebrows
Dense eyebrow
Heavy eyebrows
Prominent eyebrows
Thick eyebrows
[ more ]
|
0000574 |
5%-29% of people have these symptoms | ||
Abnormal palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ]
|
0000174 |
Abnormality of cardiovascular system morphology | 0030680 | |
Avascular necrosis of the capital femoral epiphysis | 0005743 | |
Bilateral single transverse palmar creases | 0007598 | |
Short fingers or toes
|
0001156 | |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ]
|
0000405 |
Genu valgum |
Knock knees
|
0002857 |
Hip dysplasia | 0001385 | |
Increased number of teeth |
Extra teeth
Increased tooth count
Supplemental teeth
[ more ]
|
0011069 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
|
0000252 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Recurrent urinary tract infections |
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent
[ more ]
|
0000010 |
Talipes | 0001883 | |
Thick nasal alae | 0009928 | |
Ventriculomegaly | 0002119 | |
Vesicoureteral reflux | 0000076 | |
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 |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Deeply set eye |
Deep set eye
Deep-set eyes
Sunken eye
[ more ]
|
0000490 |
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ]
|
0000750 |
Exotropia |
Outward facing eye ball
|
0000577 |
Fragile nails |
Brittle nails
|
0001808 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
Hydrometrocolpos | 0030010 | |
Joint hypermobility |
Double-Jointed
Flexible joints
Increased mobility of joints
[ more ]
|
0001382 |
Macrotia |
Large ears
|
0000400 |
Mild postnatal growth retardation | 0001530 | |
Nevus |
Mole
|
0003764 |
Recurrent upper respiratory tract infections |
Recurrent colds
|
0002788 |
Redundant skin in infancy |
Excess skin in infancy
|
0007595 |
Rib exostoses | 0000896 | |
Scapular exostoses | 0000918 | |
Scapular winging |
Winged shoulder blade
|
0003691 |
0002650 | ||
Webbed fingers or toes
|
0001159 |
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.
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. Submit a new question
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