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|
Wide/broad thumb[ more ]
|Hypoplasia of the zygomatic bone||
Decreased size of cheekbone
Underdevelopment of cheekbone[ more ]
Drooping upper eyelid
|30%-79% of people have these symptoms|
Short fingers or toes
|Clinodactyly of the 5th finger||
Permanent curving of the pinkie finger
Widely spaced eyes[ more ]
|Symphalangism affecting the phalanges of the hand||
Fused finger bones of the hand
Tall shaped skull
Tower skull shape[ more ]
|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|
Asymmetry of face
Unsymmetrical face[ more ]
Flat facial shape
Increased palatal height[ more ]
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent lower jaw[ more ]
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance[ more ]
Decreased length of neck
Decreased body height
Small stature[ more ]
|Synostosis of carpal bones||
Fusion of wrist bones
|Percent of people who have these symptoms is not available through HPO|
High, prominent forehead
Broad big toe
Wide big toe[ more ]
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity[ more ]
Narrowing of the rear opening of the nasal cavity
Overcrowding of teeth[ more ]
|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 ]
|Downslanted palpebral fissures||
Downward slanting of the opening between the eyelids
Fusion of upper and lower arm bones
Too much cerebrospinal fluid in the brain
|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 ]
Mental retardation, nonspecific
Mental-retardation[ more ]
Decreased depth of eye sockets
Shallow eye sockets[ more ]
|Short middle phalanx of toe||
Short middle bones (feet)
Decreased length of nose
Shortened nose[ more ]
|Shortening of all middle phalanges of the fingers||0006110|
Squint eyes[ 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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your 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 diagnoses include other acrocephalosyndactyly syndromes (Apert, Crouzon, Carpenter, Saethre-Chotzen, Waardenburg) and other syndromic forms of craniosynostosis such as Jackson-Weiss, Muenke and Antley-Bixler syndromes and Cutis gyrata-acanthosis nigricans-craniosynostosis.
Visit the Orphanet disease page for more information.
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.