Orpha Number: 3152
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 | ||
2-3 finger |
Webbed 2nd-3rd fingers
|
0001233 |
Abnormal cortical bone morphology | 0003103 | |
Abnormality of the nose |
Nasal abnormality
|
0000366 |
Craniofacial hyperostosis |
Excessive bone growth of the skull and face
|
0004493 |
Curved distal phalanges of the hand |
Curved outermost finger bone of the hand
|
0009838 |
Diaphyseal thickening |
Thickening of shaft or central part of long bones
|
0005019 |
Fingernail dysplasia |
Abnormal fingernail development
|
0100798 |
Increased bone mineral density |
Increased bone density
|
0011001 |
Tall stature |
Increased body height
|
0000098 |
30%-79% of people have these symptoms | ||
Facial palsy |
Bell's palsy
|
0010628 |
Drooping upper eyelid
|
0000508 | |
Sensorineural hearing impairment | 0000407 | |
5%-29% of people have these symptoms | ||
Optic atrophy | 0000648 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of |
Abnormal shape of pelvic girdle bone
|
0002644 |
0000007 | ||
Broad clavicles |
Broad collarbone
|
0000916 |
Broad ribs |
Wide ribs
|
0000885 |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ]
|
0100543 |
Constriction of peripheral visual field |
Limited peripheral vision
|
0001133 |
Cortically dense long tubular bones | 0006415 | |
Dental malocclusion |
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ]
|
0000689 |
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 |
Deviation of finger |
Atypical position of finger
Finger pointing in a different direction than usual
[ more ]
|
0004097 |
Esotropia |
Inward turning cross eyed
|
0000565 |
Facial palsy secondary to cranial hyperostosis | 0007285 | |
Frontal bossing | 0002007 | |
Headache |
Headaches
|
0002315 |
Hearing impairment |
Deafness
Hearing defect
[ more ]
|
0000365 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Increased intracranial pressure |
Rise in pressure inside skull
|
0002516 |
Malar flattening |
Zygomatic flattening
|
0000272 |
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 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ]
|
0011800 |
Nail dysplasia |
Atypical nail growth
|
0002164 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Overgrowth |
General overgrowth
|
0001548 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ]
|
0000520 |
Sclerotic scapulae | 0001474 | |
Sclerotic vertebral endplates | 0004576 | |
Sudden death | 0001699 | |
Visual loss |
Loss of vision
Vision loss
[ more ]
|
0000572 |
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 |
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.
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