Orpha Number: 2095
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||
|80%-99% of people have these symptoms|
|Abnormality of the foot||
Abnormal feet morphology
Abnormality of the feet
Foot deformity[ more ]
|Abnormality of the metacarpal bones||
Abnormality of the long bone of hand
|Abnormality of vision||
Abnormality of sight
Vision issue[ more ]
Short and broad skull
Coarse hair texture
|Conductive hearing impairment||
Conductive hearing loss[ more ]
Excessive hairiness over body
Widely spaced eyes[ more ]
|Low anterior hairline||
Low frontal hairline
Low-set frontal hairline[ more ]
Involuntary, rapid, rhythmic eye movements
Failure of development of more than six teeth
|Short distal phalanx of finger||
Short outermost finger bone
Decreased body height
Small stature[ more ]
|Underdeveloped supraorbital ridges||
Flattened bony protrusion above eyes
|30%-79% of people have these symptoms|
|Aplasia/Hypoplasia of the nasal bone||0010940|
Abnormal curving of the cornea or lens of the eye
|Hypoplasia of the maxilla||
Decreased size of maxilla
Decreased size of upper jaw
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion[ more ]
|Patent ductus arteriosus||0001643|
Hardening of skin and connective tissue
|5%-29% of people have these symptoms|
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation[ more ]
|Upper eyelid coloboma||
Cleft upper eyelid
Notched upper eyelid[ more ]
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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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