National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Orofaciodigital syndrome 3


Other Names:
OFD3; Oral-facial-digital syndrome type 3; OFD syndrome 3; OFD3; Oral-facial-digital syndrome type 3; OFD syndrome 3; Orofaciodigital syndrome III; Oral facial digital syndrome 3; Oral facial digital syndrome type 3; OFDS 3 See More
Categories:
This disease is grouped under:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2752

Definition
Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.

Epidemiology
Five cases in two families have been reported (two males and three females).

Clinical description
Main clinical features include prominent forehead and occiput, round face with full cheeks, hypertelorism, esotropia, downslanting palpebral fissures, myoclonic twitching of the eyelids, conjugate deviation of the eyes, bifid uvula, pectus excavatum, short sternum, kyphosis, postaxial polydactyly, normal stature and severe spasticity.

Etiology
The causative gene has not yet been identified.

Genetic counseling
Autosomal recessive inheritance has been suggested.

Visit the Orphanet disease page for more resources.
Last updated: 11/1/2009

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.

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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
Intellectual disability, severe
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 polydactyly
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
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257
Stage 5 chronic kidney disease 0003774
Suprasellar arachnoid cyst 0012489
Thoracic kyphosis 0002942
5%-29% of people have these symptoms
Cherry red spot of the macula 0010729
Seesaw nystagmus 0012044
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 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
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Last updated: 7/1/2020

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.

Healthcare Resources

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.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

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

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.

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