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 10


Other Names:
OFD10; Oral-facial-digital syndrome 10; OFD syndrome 10; OFD10; Oral-facial-digital syndrome 10; OFD syndrome 10; Orofaciodigital syndrome type Figuera; OFDS 10; Orofaciodigital syndrome with fibular aplasia; Oral-facial-digital syndrome with fibular aplasia; Orofaciodigital syndrome X; Oral facial digital syndrome 10; Oral facial digital syndrome type 10 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: 2756

Definition
Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.

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
Accessory oral frenulum 0000191
Aplasia/Hypoplasia of the nails
Absent/small nails
Absent/underdeveloped nails
[ more ] 		0008386
Cleft soft palate 0000185
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] 		0005280
Duplication of thumb phalanx 0009942
Fibular aplasia
Absent calf bone
0002990
Flat face
Flat facial shape
0012368
Hypoplasia of proximal radius 0006434
Long philtrum 0000343
Mesomelic arm shortening 0005011
Mesomelic leg shortening 0004987
Metatarsal synostosis
Fusion of the long bones of the feet
0001440
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Multiple palmar creases
Multiple palm lines
0006114
Oligodactyly 0012165
Polysyndactyly of hallux 0005873
Prominent calcaneus
Prominent heel bone
0012428
Radial deviation of the hand 0009486
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] 		0000278
Short 4th finger
Short ring finger
0009280
Short neck
Decreased length of neck
0000470
Short tibia
Short shinbone
Short skankbone
[ more ] 		0005736
Short toe
Short toes
Stubby toes
[ more ] 		0001831
Tarsal synostosis
Fused ankle bones
0008368
Telecanthus
Corners of eye widely separated
0000506
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Cleft palate
Cleft roof of mouth
0000175
Coalescence of tarsal bones 0005802
Hand oligodactyly
Hand has less than 5 fingers
0001180
Preaxial hand polydactyly
Extra thumb
0001177
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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

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 10. Click on the link to view a sample search on this topic.

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