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 1


Other Names:
OFD1; OFD syndrome 1; Oral-facial-digital syndrome type 1; OFD1; OFD syndrome 1; Oral-facial-digital syndrome type 1; Papillon-League-Psaume syndrome (formerly); Orofaciodigital syndrome I; Oral-facial-digital syndrome 1; Oral facial digital syndrome 1; Oral facial digital syndrome type 1; OFDS 1 See More
Categories:
This disease is grouped under:
Orofaciodigital syndrome 1 (OFD1), also called orofaciodigital syndrome type 1, is a condition that affects the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes). This condition also causes polycystic kidney disease. Orofaciodigital syndrome 1 is caused by a change (mutation) in a gene called OFD1 which appears to play an important role in the early development of many parts of the body including the brain, face, limbs, and kidneys.[1] The syndrome is inherited in an X-linked dominant pattern. The diagnosis of OFD1 is sometimes made at birth, but it may be suspected only after polycystic kidney disease is found in later childhood or adulthood. Treatment for OFD1 typically focuses on the symptoms an individual has and may include surgery for cleft lip or palate , other oral abnormalities, or syndactyly (webbing of the fingers or toes).[2] Researchers have identified at least 13 potential forms of orofaciodigital syndromes, which are classified by their patterns of signs and symptoms. OFD1 is the most common form of orofaciodigital syndrome and differs from the other types mainly by its association with polycystic kidney disease.[1]
Last updated: 11/17/2010
Oral features of OFD1 may include a split (lobed) tongue, benign tumors of the tongue, cleft palate, hypodontia (missing teeth), or other dental abnormalities. Facial features may include hypertelorism (increased width between the eyes), a small nose, micrognathia (small jaw) and other features. The fingers and toes may be short (brachydactyly), webbed or joined together (syndactyly), abnormally curved (clinodactyly), or have other abnormalities. There may be brain abnormalities (such as cysts) and kidney problems (such as polycystic kidney disease). About half of individuals with OFD1 have some degree of learning disability, which is usually mild. Almost all individuals with OFD1 are female.[2]
Last updated: 11/17/2010

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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HPO ID
80%-99% of people have these symptoms
Accessory oral frenulum 0000191
Broad alveolar ridges 0000187
Frontal bossing 0002007
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Lobulated tongue
Bumpy tongue
0000180
Median cleft lip
Central cleft upper lip
0000161
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] 		0000431
30%-79% of people have these symptoms
Ataxia 0001251
Bifid tongue
Cleft tongue
Forked tongue
Split tongue
[ more ] 		0010297
Cleft palate
Cleft roof of mouth
0000175
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Cone-shaped epiphysis
Cone-shaped end part of bone
0010579
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] 		0000324
Finger syndactyly 0006101
Foot polydactyly
Duplication of bones of the toes
0001829
Hamartoma of tongue 0011802
Hypodontia
Failure of development of between one and six teeth
0000668
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Reduced bone mineral density
Low solidness and mass of the bones
0004349
Seizure 0001250
Short toe
Short toes
Stubby toes
[ more ] 		0001831
Tongue nodules 0000199
Underdeveloped nasal alae
Underdeveloped tissue around nostril
0000430
5%-29% of people have these symptoms
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ] 		0000682
Agenesis of corpus callosum 0001274
Alopecia
Hair loss
0001596
Brachydactyly
Short fingers or toes
0001156
Brittle hair 0002299
Choanal atresia
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ] 		0000453
Chronic otitis media
Chronic infections of the middle ear
0000389
Coarse hair
Coarse hair texture
0002208
Dandy-Walker malformation 0001305
Dilatation
Wider than typical opening or gap
0002617
Dry skin 0000958
Dystonia 0001332
Elevated hepatic transaminase
High liver enzymes
0002910
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
Exocrine pancreatic insufficiency
Inability to properly digest food due to lack of pancreatic digestive enzymes
0001738
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Hydronephrosis 0000126
Hypertension 0000822
Hypoplasia of the zygomatic bone
Cheekbone underdevelopment
Decreased size of cheekbone
Underdevelopment of cheekbone
[ more ] 		0010669
Lip pit 0100267
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Milia
Milk spot
0001056
Multicystic kidney dysplasia 0000003
Myelomeningocele 0002475
Odontogenic neoplasm 0100612
Open bite
Absence of overlap of upper and lower teeth
Open bite between upper and lower teeth
[ more ] 		0010807
Pancreatic cysts 0001737
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ] 		0001162
Preaxial hand polydactyly
Extra thumb
0001177
Proteinuria
High urine protein levels
Protein in urine
[ more ] 		0000093
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
Sparse hair 0008070
Tarsal synostosis
Fused ankle bones
0008368
Telecanthus
Corners of eye widely separated
0000506
Tremor 0001337
Percent of people who have these symptoms is not available through HPO
Abnormal cerebellum morphology
Abnormality of the cerebellum
Cerebellar abnormalities
Cerebellar abnormality
Cerebellar anomaly
[ more ] 		0001317
Abnormal cortical gyration 0002536
Abnormal heart morphology
Abnormality of the heart
Abnormally shaped heart
Heart defect
[ more ] 		0001627
Abnormality of toe
Abnormalities of the toes
0001780
Agenesis of permanent teeth
Failure of development of permanent teeth
Missing teeth
[ more ] 		0006349
Alveolar ridge overgrowth
Overgrowth of gum ridge
0009085
Arachnoid cyst
Fluid-filled sac located in membrane surrounding brain or spinal cord
0100702
Carious teeth
Dental cavities
Tooth cavities
Tooth decay
[ more ] 		0000670
Clinodactyly
Permanent curving of the finger
0030084
Congenital onset
Symptoms present at birth
0003577
Gray matter heterotopia 0002282
Hepatic cysts
Liver cysts
0001407
Hepatic fibrosis 0001395
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypoplasia of dental enamel
Underdeveloped teeth enamel
0006297
Hypothalamic hamartoma 0002444
Increased number of teeth
Extra teeth
Increased tooth count
Supplemental teeth
[ more ] 		0011069
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Microretrognathia
Small retruded chin
0000308
Ovarian cyst 0000138
Polycystic kidney dysplasia 0000113
Polydactyly
More than five fingers or toes on hands or feet
0010442
Porencephalic cyst
Cavity within brain
0002132
Radial deviation of finger 0009466
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Syndactyly
Webbed fingers or toes
0001159
X-linked dominant inheritance 0001423
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Last updated: 7/1/2020
Genetic testing for orofaciodigital syndrome 1 is clinically available. OFD1  is the only gene currently known to be associated with this condition. Testing is often used to confirm or establish the diagnosis in an individual when OFD1 is suspected.  A change (mutation) in the OFD1 gene is detected in up to 85% of individuals who have OFD1.[2] 

You can find laboratories offering clinical genetic testing for OFD1 on a website called GeneTests. To see a listing of clinical testing laboratories click here. GeneTests does not currently list laboratories doing research testing for OFD1. 

Last updated: 11/15/2010

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

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include other OFD syndromes and disorders (OFD2, 3, 4, 5, 6, 8 and 9), and familial cystic renal disease (see these terms). Meckel and Joubert syndromes (see these terms) should also be considered.
Visit the Orphanet disease page for more information.

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

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • 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 1. Click on the link to view a sample search on this topic.

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. Submit a new question

  • Is genetic testing available for orofaciodigital syndrome 1 (OFD1)? Does Medicaid cover genetic testing? See answer


  1. Oral-facial-digital syndrome. Genetics Home Reference. February 2010; http://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome. Accessed 11/10/2010.
  2. Helga V Toriello, Brunella Franco. Oral-Facial-Digital Syndrome Type 1. GeneReviews. October 14, 2010; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=ofd1. Accessed 11/10/2010.