The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Abnormality of thumb phalanx | 90% |
| Hypoplasia of the zygomatic bone | 90% |
| Ptosis | 90% |
| Brachydactyly syndrome | 50% |
| Clinodactyly of the 5th finger | 50% |
| Finger syndactyly | 50% |
| High forehead | 50% |
| Hypertelorism | 50% |
| Symphalangism affecting the phalanges of the hand | 50% |
| Wide nasal bridge | 50% |
| Abnormality of the hip bone | 7.5% |
| Abnormality of the palate | 7.5% |
| Cloverleaf skull | 7.5% |
| Facial asymmetry | 7.5% |
| Hyperlordosis | 7.5% |
| Malar flattening | 7.5% |
| Mandibular prognathia | 7.5% |
| Open mouth | 7.5% |
| Short neck | 7.5% |
| Short philtrum | 7.5% |
| Short stature | 7.5% |
| Synostosis of carpal bones | 7.5% |
| Arnold-Chiari malformation | - |
| Autosomal dominant inheritance | - |
| Brachyturricephaly | - |
| Broad hallux | - |
| Broad thumb | - |
| Bronchomalacia | - |
| Cartilaginous trachea | - |
| Choanal atresia | - |
| Choanal stenosis | - |
| Coronal craniosynostosis | - |
| Dental crowding | - |
| Depressed nasal bridge | - |
| Elbow ankylosis | - |
| High palate | - |
| Humeroradial synostosis | - |
| Hydrocephalus | - |
| Hypoplasia of the maxilla | - |
| Intellectual disability | - |
| Shallow orbits | - |
| Short middle phalanx of toe | - |
| Short nose | - |
| Shortening of all middle phalanges of the fingers | - |
| Strabismus | - |
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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
If a person has the mild form of Pfeiffer syndrome, can his children still have the more severe kind? See answer
I was wondering if people with Pfeiffer syndrome have circulatory problems in their legs. Does this syndrome cause problems moving blood throughout the body? I just found out that I have Pfeiffer syndrome. I am having problems getting around the older I get. I'm wondering if it has anything to do with this syndrome. See answer
