Although the signs and symptoms that occur in people with orofaciodigital syndrome type 2 may vary, the following findings may be present:Facial findings
Finger and toe findings
Other possible findings
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)|
|Conductive hearing impairment||90%|
|Postaxial hand polydactyly||90%|
|Wide nasal bridge||90%|
|Clinodactyly of the 5th finger||75%|
|Preaxial foot polydactyly||75%|
|Abnormality of the metaphyses||50%|
|Accessory oral frenulum||50%|
|Bifid nasal tip||50%|
|Broad nasal tip||50%|
|Depressed nasal bridge||50%|
|Hypoplasia of the maxilla||50%|
|Median cleft lip||50%|
|Midline defect of the nose||50%|
|Reduced number of teeth||50%|
|Postaxial foot polydactyly||33%|
|Preaxial hand polydactyly||33%|
|Abnormality of the cranial nerves||7.5%|
|Abnormality of the genital system||7.5%|
|Abnormality of the metacarpal bones||7.5%|
|Agenesis of central incisor||7.5%|
|Aplasia/Hypoplasia of the cerebellum||7.5%|
|Autosomal recessive inheritance||-|
|Bilateral postaxial polydactyly||-|
|Partial duplication of the phalanges of the hallux||-|
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.
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.
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.
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I have a pregnant colleague that has been told her unborn child has Mohr syndrome (also known as orofaciodigital syndrome 2). I work in the health care field and have never heard of this disorder. I am looking for credible information that will help me understand this syndrome. I want to be informed. See answer