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 2


Other Names:
OFD2; OFD syndrome 2; Oral-facial-digital syndrome type 2; OFD2; OFD syndrome 2; Oral-facial-digital syndrome type 2; Mohr syndrome; Orofaciodigital syndrome II; Oral facial digital syndrome 2; Oral facial digital syndrome type 2; OFDS 2 See More
Categories:
This disease is grouped under:
Orofaciodigital syndrome type 2 (OFDS 2) is a genetic condition that affects the development of the mouth, face, hands, and feet.[1] It belongs to a group of disorders called orofaciodigital syndromes (OFDS), which are characterized by mouth malformations, unique facial findings, and abnormalities of the fingers and/or toes.[2] Other organs might be affected in OFDS, defining the specific types. OFDS type 2 is very similar to oral-facial-digital syndrome (OFDS) type 1. Signs and symptoms may include: cleft lip and/or palate, additional or fused fingers or toes (polydactyly or syndactyly), characteristic facial features, and congenital heart defects. Although it is highly suspected that OFDS 2 is genetic, the exact gene that causes the syndrome has not been identified. It is believed to be inherited in an autosomal recessive pattern. Although there is no specific treatment or cure for OFDS 2, there are ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.[1][3]
Last updated: 9/12/2016
Although the signs and symptoms that occur in people with OFDS 2 may vary, the following findings may be present[1][4]:
  • Facial findings including nodules (bumps) of the tongue, a split in the lip and/or palate (cleft lip and/or palate), a thickened frenulum (cord of tissue) under the tongue or between the lip and gum, and an unusually wide nasal bridge resulting in widely spaced eyes (dystopia canthorum)
  •  Finger and toe findings including narrow, short fingers and toes (clinobrachydactyly), syndactyly (fused fingers and toes), presence of more than five fingers on hands and/or five toes on feet (polydactyly), and a Y-shaped central metacarpal (bone that connects the fingers to the hands)
Other possible findings include: conductive hearing loss, central nervous system impairments (porencephaly and hydrocephaly), intellectual disabilities, increased susceptibility to respiratory (lung) infections, and heart defects (atrioventricular canal [endocardial cushion] defects).[1][3]
Last updated: 9/12/2016

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
Abnormal oral frenulum morphology 0000190
Accessory oral frenulum 0000191
Agenesis of central incisor
Absent central incisor
0006289
Bifid nasal tip
Cleft nasal tip
0000456
Bifid tongue
Cleft tongue
Forked tongue
Split tongue
[ more ] 		0010297
Brachydactyly
Short fingers or toes
0001156
Broad first metatarsal
Wide 1st long bone of foot
0010068
Broad hallux
Broad big toe
Wide big toe
[ more ] 		0010055
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
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Complete duplication of hallux phalanx
Complete duplication of big toe bones
0010100
Conductive hearing impairment
Conductive deafness
Conductive hearing loss
[ more ] 		0000405
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
Finger clinodactyly 0040019
Finger syndactyly 0006101
Flared metaphysis
Flared wide portion of long bone
0003015
Hamartoma of tongue 0011802
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Hypoplasia of teeth 0000685
Hypoplasia of the maxilla
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ] 		0000327
Lobulated tongue
Bumpy tongue
0000180
Malar flattening
Zygomatic flattening
0000272
Median cleft lip
Central cleft upper lip
0000161
Metaphyseal irregularity
Irregular wide portion of a long bone
0003025
Micrognathia
Little lower jaw
Small lower jaw
Small jaw
[ more ] 		0000347
Postaxial foot polydactyly
Extra toe attached near the little toe
0001830
Postaxial hand polydactyly
Extra pinky finger
Extra pinkie finger
Extra little finger
[ more ] 		0001162
Preaxial foot polydactyly 0001841
Preaxial hand polydactyly
Extra thumb
0001177
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Submucous cleft soft palate 0011819
Telecanthus
Corners of eye widely separated
0000506
Tongue nodules 0000199
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
Y-shaped metacarpals
Y-shaped long bone of hand
0006042
5%-29% of people have these symptoms
Apnea 0002104
Arachnoid cyst
Fluid-filled sac located in membrane surrounding brain or spinal cord
0100702
Atrioventricular canal defect 0006695
Central retinal vessel vascular tortuosity 0007768
Cleft palate
Cleft roof of mouth
0000175
Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped end part of finger bones
0010230
Global developmental delay 0001263
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hypoplasia of the epiglottis 0005349
Infantile muscular hypotonia
Decreased muscle tone in infant
0008947
Mesomelic leg shortening 0004987
Pectus excavatum
Funnel chest
0000767
Peg-shaped maxillary lateral incisors 0006342
Polysyndactyly of hallux 0005873
Porencephalic cyst
Cavity within brain
0002132
Protruding ear
Prominent ear
Prominent ears
[ more ] 		0000411
Scoliosis 0002650
Short tibia
Short shinbone
Short skankbone
[ more ] 		0005736
Syndactyly
Webbed fingers or toes
0001159
Tachypnea
Increased respiratory rate or depth of breathing
0002789
Talon cusp 0011087
Taurodontia 0000679
Thick hair
Increased hair density
0100874
Unilateral alveolar cleft of maxilla 0410033
Velopharyngeal insufficiency
Velopharyngeal incompetence
0000220
Wormian bones
Extra bones within cranial sutures
0002645
1%-4% of people have these symptoms
Adactyly 0009776
Bilateral tonic-clonic seizure
Grand mal seizures
0002069
Hypoplastic male external genitalia
Small male external genitalia
Underdeveloped male genitalia
[ more ] 		0000050
Natal tooth
Born with teeth
Teeth present at birth
[ more ] 		0000695
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Bilateral postaxial polydactyly 0006136
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Partial duplication of the phalanges of the hallux
Partial duplication of big toe
0010101
Short palm 0004279
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Last updated: 7/1/2020
OFDS 2 is suspected to be a genetic disorder, given reports of families in which it appears to be inherited in an autosomal recessive inheritance pattern. The causative gene is not known at this time.[5]
Last updated: 9/12/2016
OFDS 2 is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:[5]
  • 25% (1 in 4) chance to be affected
  • 50% (1 in 2) chance to be an unaffected carrier like each parent
  • 25% (1 in 4) chance to not be affected and not be a carrier
Last updated: 9/12/2016

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • Orphanet lists international laboratories offering diagnostic testing for this condition.
Although there is no one treatment for OFDS 2, there may be ways for a team of specialists to manage the signs and symptoms present in each individual. For example, reconstructive surgery might be performed to correct oral, facial, and/or finger and toe abnormalities.[1]
Last updated: 9/12/2016
The signs and symptoms associated with OFDS 2 may vary from person to person, even within the same family.[1] Therefore, the challenges faced by one person with the syndrome may be completely different than someone else with OFDS 2. Given the variability of the disorder, it may be useful to speak with the patient's health care provider in order to have a better understanding of the different complications that might arise based on the signs and symptoms present in that patient.
Last updated: 9/15/2016

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

  • Genetics Home Reference (GHR) contains information on Orofaciodigital syndrome 2. 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 2. 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

  • I have a pregnant colleague that has been told her unborn child has Mohr syndrome (also known as orofaciodigital syndrome 2). I work in the health care field and have never heard of this disorder. I am looking for credible information that will help me understand this syndrome. I want to be informed. See answer


  1. Gurrieri F, Franco B, Toriello H, Neri G. Research Review Oral-Facial-Digital Syndromes: Review and Diagnostic Guidelines. American Journal of Medical Genetics. 2007; http://www.ncbi.nlm.nih.gov/pubmed/17963220.
  2. Oral-Facial-Digital Syndrome. NORD. 2007; http://rarediseases.org/rare-diseases/oral-facial-digital-syndrome/.
  3. Marie-Paule VAZQUEZ. Orofaciodigital syndrome type 2. Orphanet. November 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2751.
  4. Rhouma A, Horneff G. Mohr-Claussen syndrome or oro-facial-digital syndrome (OFDS) type-II. Klin Padiatr. Apr 2014; 226(2):78-79. http://www.ncbi.nlm.nih.gov/pubmed/24643746.
  5. Victor A. McKusick. MOHR SYNDROME. In: Carol A. Bocchini. OMIM. 7/23/2015; http://www.omim.org/entry/252100.