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)|
|Broad alveolar ridges||90%|
|Cleft upper lip||90%|
|Wide nasal bridge||90%|
|Abnormality of the nares||50%|
|Clinodactyly of the 5th finger||50%|
|Reduced bone mineral density||50%|
|Reduced number of teeth||50%|
|Underdeveloped nasal alae||50%|
|Abnormality of dental enamel||7.5%|
|Aplasia/Hypoplasia of the corpus callosum||7.5%|
|Cystic liver disease||7.5%|
|Elevated hepatic transaminases||7.5%|
|Exocrine pancreatic insufficiency||7.5%|
|Hypoplasia of the zygomatic bone||7.5%|
|Multicystic kidney dysplasia||7.5%|
|Postaxial hand polydactyly||7.5%|
|Preaxial hand polydactyly||7.5%|
|Abnormal cortical gyration||-|
|Abnormal heart morphology||-|
|Abnormality of the cerebellum||-|
|Abnormality of toe||-|
|Agenesis of corpus callosum||-|
|Agenesis of permanent teeth||-|
|Alveolar ridge overgrowth||-|
|Gray matter heterotopias||-|
|Hypoplasia of dental enamel||-|
|Increased number of teeth||-|
|Median cleft lip||-|
|Polycystic kidney dysplasia||-|
|Radial deviation of finger||-|
|X-linked dominant inheritance||-|
You can find laboratories offering clinical genetic testing for OFD1 on a website called GeneTests. To see a listing of clinical testing laboratories click here. GeneTests does not currently list laboratories doing research testing for OFD1.
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.
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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Is genetic testing available for orofaciodigital syndrome 1 (OFD1)? Does Medicaid cover genetic testing? See answer