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 9


Other Names:
OFD9; Oral-facial-digital syndrome type 9; OFD syndrome 9; OFD9; Oral-facial-digital syndrome type 9; OFD syndrome 9; Orofaciodigital syndrome with retinal abnormalities; Oral-facial-digital syndrome with retinal abnormalities; Orofaciodigital syndrome IX; Oral facial digital syndrome type 9; Oral facial digital syndrome 9; OFDS 9 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: 141007

Definition
Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment).

Epidemiology
Less than ten cases have been described in the literature.

Clinical description
Recurrent aspiration pneumonia and severe microcephaly have been reported occasionally.

Etiology
The causative gene has not yet been identified.

Genetic counseling
Autosomal and X-linked recessive inheritance were initially suggested. Taking into consideration all reported cases so far, autosomal recessive inheritance seems most likely.

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.

Showing of 25 |
Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] 		0000164
Accessory oral frenulum 0000191
Autosomal recessive inheritance 0000007
Bifid nasal tip
Cleft nasal tip
0000456
Brain atrophy
Brain degeneration
Brain wasting
[ more ] 		0012444
Broad nasal tip
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ] 		0000455
Camptodactyly
Permanent flexion of the finger or toe
0012385
Cleft palate
Cleft roof of mouth
0000175
Global developmental delay 0001263
Hamartoma 0010566
Hand polydactyly
Extra finger
0001161
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Hypoplasia of the epiglottis 0005349
Median cleft lip
Central cleft upper lip
0000161
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Milia
Milk spot
0001056
Recurrent aspiration pneumonia 0002100
Retinal coloboma
Hole in the back of the eye
0000480
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Short tibia
Short shinbone
Short skankbone
[ more ] 		0005736
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Telecanthus
Corners of eye widely separated
0000506
Toe syndactyly
Fused toes
Webbed toes
[ more ] 		0001770
X-linked recessive inheritance 0001419
Showing of 25 |
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 9. Click on the link to view a sample search on this topic.

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