Orpha Number: 2363
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||
|Percent of people who have these symptoms is not available through HPO|
Webbed 2nd-3rd fingers
|Absence of Stensen duct||0000198|
|Absent lacrimal punctum||0001092|
|Absent proximal phalanx of thumb||
Absent innermost thumb bone
Absence of tears in the eyes
Absent tear secretion[ more ]
|Aplasia of the parotid gland||0009740|
|Bilateral triphalangeal thumbs||0005707|
Increased width of the forehead
Wide forehead[ more ]
Broad big toe
Wide big toe[ more ]
Tooth decay[ more ]
|Clinodactyly of the 5th finger||0004209|
Cone shaped front tooth
Shark tooth incisor[ more ]
Simple, cup-shaped ears[ more ]
|Delayed eruption of primary teeth||
Delayed eruption of baby teeth
Delayed eruption of milk teeth
Late eruption of baby teeth
Late eruption of milk teeth[ more ]
|Downslanted palpebral fissures||
Downward slanting of the opening between the eyelids
Stretchable skin[ more ]
Widely spaced eyes[ more ]
Failure of development of between one and six teeth
|Hypoplasia of dental enamel||0006297|
|Hypoplasia of the lacrimal punctum||0007892|
|Hypoplasia of the radius||0002984|
|Hypoplasia of the ulna||0003022|
|Hypoplastic lacrimal duct||
Underdeveloped tear duct
|Lacrimal gland aplasia||
Absent tear gland
|Lacrimal gland hypoplasia||
Underdeveloped tear gland
|Mixed hearing impairment||
Hearing loss, mixed
Mixed hearing loss[ more ]
|Nasolacrimal duct obstruction||0000579|
Scarring of kidney arteries
Thickening of kidney artiries[ more ]
Partial duplication of the thumb bones
|Radial deviation of the 3rd finger||
Inward turned middle finger
|Recurrent corneal erosions||0000495|
Missing kidney[ more ]
|Small thenar eminence||0001245|
Corners of eye widely separated
Dry mouth syndrome
Reduced salivation[ more ]
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.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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