Orofaciodigital syndrome 4

Title

Other Names:

OFD4; Orofaciodigital syndrome with tibial dysplasia; Baraitser-Burn syndrome; OFD4; Orofaciodigital syndrome with tibial dysplasia; Baraitser-Burn syndrome; OFD syndrome with tibial defects; OFD syndrome 4; Oral-facial-digital syndrome type 4; Orofaciodigital syndrome IV; Oral facial digital syndrome type 4; Oral facial digital syndrome 4; OFDS 4 See More

Categories:

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Lung Diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Lung Diseases; Mouth Diseases; Musculoskeletal Diseases; Nervous System Diseases See More

This disease is grouped under:

Orofaciodigital syndromes

Summary Summary

Orofaciodigital syndrome 4 is one of a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).^[1] Specific features, while variable, commonly include non-cancerous tumors (hamartomas) of the tongue, polydactyly of the hands and feet, severe clubfoot, and shortening and bowing of the middle portion of the lower leg (mesomelic limb shortening with tibial dysplasia). Orofaciodigital syndrome 4 is inherited in an autosomal recessive fashion.^[2]^[3] The condition appears to be caused by mutations in the tectonic family member 3 gene (TCTN3).^[3]

Last updated: 3/23/2013

Symptoms 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.

Showing of 79 |

Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal oral frenulum morphology		0000190
Abnormality of eye movement	Abnormal eye movement Abnormal eye movements Eye movement abnormalities Eye movement issue [ more ]	0000496
Abnormality of the gingiva	Abnormality of the gums	0000168
Abnormality of the tongue	Abnormal tongue Tongue abnormality [ more ]	0000157
Absent testis	Absent testes	0010469
Aplasia/Hypoplasia of the tibia	Absent/small shankbone Absent/small shinbone Absent/underdeveloped shankbone Absent/underdeveloped shinbone [ more ]	0005772
Choanal atresia	Blockage of the rear opening of the nasal cavity Obstruction of the rear opening of the nasal cavity [ more ]	0000453
Conductive hearing impairment	Conductive deafness Conductive hearing loss [ more ]	0000405
Decreased testicular size	Small testes Small testis [ more ]	0008734
Depressed nasal ridge	Flat nose Recessed nasal ridge [ more ]	0000457
Finger syndactyly		0006101
Genu varum	Outward bow-leggedness Outward bowing at knees [ more ]	0002970
Global developmental delay		0001263
Hamartoma		0010566
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Intrauterine growth retardation	Prenatal growth deficiency Prenatal growth retardation [ more ]	0001511
Joint dislocation	Joint dislocations Recurrent joint dislocations [ more ]	0001373
Laryngomalacia	Softening of voice box tissue	0001601
Low-set ears	Low set ears Lowset ears [ more ]	0000369
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
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Micromelia	Smaller or shorter than typical limbs	0002983
Microtia, third degree		0011267
Monorchism		0030868
Oligohydramnios	Low levels of amniotic fluid	0001562
Oral synechia		0010285
Postaxial hand polydactyly	Extra little finger Extra pinkie finger Extra pinky finger [ more ]	0001162
Posteriorly rotated ears	Ears rotated toward back of head	0000358
Preaxial hand polydactyly	Extra thumb	0001177
Recurrent respiratory infections	Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ]	0002205
Retrognathia	Receding chin Receding lower jaw Weak chin Weak jaw [ more ]	0000278
Severe short stature	Dwarfism Proportionate dwarfism Short stature, severe [ more ]	0003510
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Specific learning disability		0001328
Wide nose	Broad nose Increased breadth of nose Increased nasal breadth Increased nasal width Increased width of nose [ more ]	0000445
30%-79% of people have these symptoms
Bifid uvula		0000193
Camptodactyly of finger	Permanent flexion of the finger	0100490
Cerebral cortical hemiatrophy		0100308
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
High, narrow palate	Narrow, high-arched roof of mouth Narrow, highly arched roof of mouth [ more ]	0002705
Proptosis	Bulging eye Eyeballs bulging out Prominent eyes Prominent globes Protruding eyes [ more ]	0000520
Split hand	Claw hand Claw hand deformities Claw hands Claw-hand deformities Split-hand [ more ]	0001171
Subcortical cerebral atrophy		0012157
Submucous cleft hard palate		0000176
5%-29% of people have these symptoms
Abnormality of cardiovascular system morphology		0030680
Absent crus of helix		0011255
Anal atresia	Absent anus	0002023
Bilateral lung agenesis	Absent lungs	0005944
Hypoplastic toenails	Underdeveloped toenails	0001800
Perineal fistula		0004871
Primary adrenal insufficiency		0008207
Pulmonary hypoplasia	Small lung Underdeveloped lung [ more ]	0002089
Rectal atresia		0025023
Rectovaginal fistula	Abnormal connection between rectum and vagina	0000143
Renal agenesis	Absent kidney Missing kidney [ more ]	0000104
Short philtrum		0000322
Percent of people who have these symptoms is not available through HPO
Accessory oral frenulum		0000191
Autosomal recessive inheritance		0000007
Brachydactyly	Short fingers or toes	0001156
Cerebral atrophy	Degeneration of cerebrum	0002059
Cleft palate	Cleft roof of mouth	0000175
Clinodactyly	Permanent curving of the finger	0030084
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Foot polydactyly	Duplication of bones of the toes	0001829
Hamartoma of tongue		0011802
Hand polydactyly	Extra finger	0001161
High palate	Elevated palate Increased palatal height [ more ]	0000218
Lobulated tongue	Bumpy tongue	0000180
Pectus excavatum	Funnel chest	0000767
Porencephalic cyst	Cavity within brain	0002132
Postaxial polydactyly		0100259
Short finger	Stubby finger	0009381
Short stature	Decreased body height Small stature [ more ]	0004322
Short tibia	Short shinbone Short skankbone [ more ]	0005736
Toe syndactyly	Fused toes Webbed toes [ more ]	0001770
Tongue nodules		0000199

Showing of 79 |

Last updated: 7/1/2020

Find a Specialist Find a Specialist

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

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

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.

Organizations 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: http://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: http://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: http://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 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

Genetics Home Reference (GHR) contains information on Orofaciodigital syndrome 4. This website is maintained by the National Library of Medicine.
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 4. Click on the link to view a sample search on this topic.

News & Events News & Events

News

NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

References References

Oral-facial-digital syndrome. Genetics Home Reference (GHR). February 2010; http://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome. Accessed 3/23/2013.
Vazquez MP. Oral-facial-digital syndrome type 4. Orphanet. November 2009; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2509. Accessed 3/23/2013.
Orofaciodigital Syndrome IV. Online Mendelian Inheritance in Man (OMIM). September 2012; http://omim.org/entry/258860. Accessed 3/23/2013.

You can help advance
rare disease research! You can help advance rare disease research!

Find out how with the NCATS Toolkit.