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|
Abnormal deposits of calcium in the brain
|30%-79% of people have these symptoms|
|Abnormality of the neck||0000464|
Short fingers or toes
|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 ]
|5%-29% of people have these symptoms|
|Abnormality of the sense of smell||
Abnormal sense of smell
Smell defect[ more ]
Long slender fingers
Spider fingers[ more ]
Short and broad skull
Tooth decay[ more ]
Clouding of the lens of the eye
Cloudy lens[ more ]
Undescended testis[ more ]
Prominent eye folds[ more ]
Missing part of vertebrae
Too much cerebrospinal fluid in the brain
Widely spaced eyes[ more ]
Mental retardation, nonspecific
Mental-retardation[ more ]
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent lower jaw[ more ]
Squint eyes[ more ]
Corners of eye widely separated
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the sternum||
|Basal cell carcinoma||0002671|
Split ribs[ more ]
|Bridged sella turcica||0005449|
Increased breadth of face
Increased width of face
Wide face[ more ]
|Calcification of falx cerebri||0005462|
Cleft roof of mouth
|Cleft upper lip||
|Coarse facial features||
Coarse facial appearance
Rounded, sloping shoulders
Sloping shoulders[ more ]
|Hamartomatous stomach polyps||0004795|
|Irregular ossification of hand bones||0004280|
Increased size of skull
Large head circumference[ more ]
Abnormally small eyeball
|Odontogenic keratocysts of the jaw||0010603|
Cyst of eye socket
More than five fingers or toes on hands or feet
|Short 4th metacarpal||
Shortened 4th long bone of hand
|Short distal phalanx of the thumb||
Short outermost bone of the thumb
High shoulder blade
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.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes: Sotos syndrome, Brooke-Spiegler syndrome, Bazex syndrome, Rombo syndrome, Muir-Torre syndrome, Beckwith-Wiedemann syndrome, isolated hydrocephaly or megalencephaly, an autosomal dominant or X-linked syndrome of hypotrichosis.
Visit the Orphanet disease page for more information.
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.
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
Two of my close relatives had nevoid basal cell carcinoma syndrome. Can I pass on this disorder to my children if I don't have any symptoms of the disease? See answer
What can I do to prevent or help my son with his condition? See answer
Can this syndrome be accompanied by other problems? Can a child's large body size and abnormal face shape have something to do with this? What are the effects in the long run? See answer