Rare Rheumatology News
Advertisement
Disease Profile
Orofaciodigital syndrome 3
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 >
Age of onset
Childhood
ICD-10
Q87.0
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
OFD3; Oral-facial-digital syndrome type 3; OFD syndrome 3;
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases;
Summary
Orpha Number: 2752
Symptoms
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 |
Learn More:
HPO ID
|
---|---|---|
30%-79% of people have these symptoms | ||
Bifid uvula | 0000193 | |
Bulbous nose | 0000414 | |
Dandy-Walker malformation | 0001305 | |
Exotropia |
Outward facing eye ball
|
0000577 |
Eyelid myoclonias | 0011168 | |
Hamartoma of tongue | 0011802 | |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 | |
Irregular dentition |
Irregular teeth
|
0040079 |
Lobulated tongue |
Bumpy tongue
|
0000180 |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Myoclonus | 0001336 | |
Oculomotor apraxia | 0000657 | |
Pectus excavatum |
Funnel chest
|
0000767 |
Postaxial foot |
Extra toe attached near the little toe
|
0001830 |
Postaxial hand polydactyly |
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ] |
0001162 |
Short sternum | 0000879 | |
Involuntary muscle stiffness, contraction, or spasm
|
0001257 | |
Stage 5 chronic |
0003774 | |
Suprasellar arachnoid cyst | 0012489 | |
Thoracic kyphosis | 0002942 | |
5%-29% of people have these symptoms | ||
Cherry red spot of the macula | 0010729 | |
Seesaw |
0012044 | |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Bifid tongue |
Cleft tongue
Forked tongue
Split tongue
[ more ] |
0010297 |
Hyperconvex nail |
Increased nail curvature
Nail overcurvature
[ more ] |
0001795 |
Increased number of teeth |
Extra teeth
Increased tooth count
Supplemental teeth
[ more ] |
0011069 |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Microdontia |
Decreased width of tooth
|
0000691 |
Tongue nodules | 0000199 |
Organizations
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.
Organizations Supporting this Disease
-
About Face International
51 Wolseley Street
Toronto, ON M5T 1A4
Canada
Toll-free: 1-800-665-3223
Telephone: +1-416-597-2229
Fax: +1-416-597-8494
E-mail: info@aboutface.ca
Website: https://www.aboutface.ca/ -
ACPA Family Services
1504 East Franklin Street, Suite 102
Chapel Hill, NC 27514-2820
Telephone: +1-919-933-9044
Fax: +1-919-933-9604
E-mail: info@acpa-cpf.org
Website: https://cleftline.org/ -
Ameriface
PO Box 751112
Las Vegas, NV 89136
Toll-free: 888-486-1209
Telephone: 702-769-9264
E-mail: info@ameriface.org
Website: https://www.ameriface.org -
Children's Craniofacial Association
13140 Coit Road Suite 517
Dallas, TX 75240
Toll-free: 1-800-535-3643
Telephone: +1-214-570-9099
Fax: +1-214-570-8811
E-mail: contactCCA@ccakids.com
Website: https://ccakids.org/ -
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Toll-free: 800-332-2373
Telephone: 423-266-1632
E-mail: faces@faces-cranio.org
Website: https://www.faces-cranio.org/ -
Let's Face It
University of Michigan School of Dentistry Dentistry Library
1011 North University
Ann Arbor, MI 48109-1078
E-mail: faceit@umich.edu
Website: https://media.dent.umich.edu/faceit/info/
This website does not appear to be actively updated any longer. However the information and resources may be helpful.
Learn more
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.
Where to Start
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Orofaciodigital syndrome 3. Click on the link to view a sample search on this topic.